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DDG2P v3.82 | CAPRIN1 | Arina Puzriakova Added comment: Comment on phenotypes: Gene-checked tag removed as this gene now has a relevant phenotype listed in OMIM (Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline, OMIM:620636) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.82 | CAPRIN1 | Arina Puzriakova Phenotypes for gene: CAPRIN1 were changed from Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline, OMIM:620636 to Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline, OMIM:620636 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.81 | CAPRIN1 | Arina Puzriakova Phenotypes for gene: CAPRIN1 were changed from AUTISM OR INTELLECTUAL DISABILITY to Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline, OMIM:620636 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.73 | TMEM251 | Achchuthan Shanmugasundram commented on gene: TMEM251: Added new-gene-name tag, new approved HGNC gene symbol for TMEM251 is LYSET. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.71 | NUP107 | Achchuthan Shanmugasundram Phenotypes for gene: NUP107 were changed from GALLOWAY-MOWAT SYNDROME 7, 618348; EARLY-CHILDHOOD-ONSET STEROID-RESISTANT NEPHROTIC SYNDROME to GALLOWAY-MOWAT SYNDROME 7, OMIM:618348 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.62 | TWIST2 | Achchuthan Shanmugasundram Phenotypes for gene: TWIST2 were changed from SETLEIS SYNDROME, OMIM:227260; ABLEPHARON MACROSTOMIA SYNDROME, OMIM:200110 to SETLEIS SYNDROME, OMIM:227260; ABLEPHARON MACROSTOMIA SYNDROME, OMIM:200110 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.62 | TWIST2 | Achchuthan Shanmugasundram Phenotypes for gene: TWIST2 were changed from SETLEIS SYNDROME, OMIM:227260; ABLEPHARON MACROSTOMIA SYNDROME, OMIM:200110 to SETLEIS SYNDROME, OMIM:227260; ABLEPHARON MACROSTOMIA SYNDROME, OMIM:200110 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.62 | TWIST2 | Achchuthan Shanmugasundram Phenotypes for gene: TWIST2 were changed from ABLEPHARON MACROSTOMIA SYNDROME, OMIM:200110; Focal facial dermal dysplasia 3, Setleis type, OMIM:227260 to SETLEIS SYNDROME, OMIM:227260; ABLEPHARON MACROSTOMIA SYNDROME, OMIM:200110 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.61 | TWIST2 |
Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease ABLEPHARON MACROSTOMIA SYNDROME, OMIM:200110 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:26119818). The DDG2P confidence category for the disease SETLEIS SYNDROME, OMIM:227260 is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMIDs: 21931173;8818454;14069095).; to: The DDG2P confidence category for the disease ABLEPHARON MACROSTOMIA SYNDROME, OMIM:200110 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:26119818). The DDG2P confidence category for the disease SETLEIS SYNDROME, OMIM:227260 is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMIDs: 21931173;8818454;14069095). |
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DDG2P v3.60 | TBCE | Achchuthan Shanmugasundram Phenotypes for gene: TBCE were changed from Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy; HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME, OMIM:241410 to Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy; HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME, OMIM:241410 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.60 | TBCE | Achchuthan Shanmugasundram Phenotypes for gene: TBCE were changed from Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy; HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME, OMIM:241410 to Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy; HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME, OMIM:241410 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.60 | TBCE | Achchuthan Shanmugasundram Phenotypes for gene: TBCE were changed from Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy; HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME 241410; KENNY-CAFFEY SYNDROME TYPE 1 244460 to Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy; HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME, OMIM:241410 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.59 | TBCE |
Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME, OMIM:241410 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID:12389028). The DDG2P confidence category for the disease Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy is strong. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure (PMID:27666369).; to: The DDG2P confidence category for the disease HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME, OMIM:241410 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID:12389028). The DDG2P confidence category for the disease Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy is strong. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure (PMID:27666369). |
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DDG2P v3.32 | CLN6 | Achchuthan Shanmugasundram Phenotypes for gene: CLN6 were changed from CEROID LIPOFUSCINOSIS, NEURONAL, 6, OMIM:601780; CEROID LIPOFUSCINOSIS, NEURONAL, KUFS TYPE, ADULT ONSET, OMIM:204300 to CEROID LIPOFUSCINOSIS, NEURONAL, 6, OMIM:601780; CEROID LIPOFUSCINOSIS, NEURONAL, KUFS TYPE, ADULT ONSET, OMIM:204300 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.32 | CLN6 | Achchuthan Shanmugasundram Phenotypes for gene: CLN6 were changed from CEROID LIPOFUSCINOSIS, NEURONAL, KUFS TYPE, ADULT ONSET 204300; CEROID LIPOFUSCINOSIS, NEURONAL, 6 601780 to CEROID LIPOFUSCINOSIS, NEURONAL, 6, OMIM:601780; CEROID LIPOFUSCINOSIS, NEURONAL, KUFS TYPE, ADULT ONSET, OMIM:204300 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.31 | CLN6 |
Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease CEROID LIPOFUSCINOSIS, NEURONAL, 6, OMIM:601780 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are biallelic_autosomal, absent gene product and potential IF respectively (PMIDs: 11791207;15996215;11727201). The DDG2P confidence category for the disease CEROID LIPOFUSCINOSIS, NEURONAL, KUFS TYPE, ADULT ONSET, OMIM:204300 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are biallelic_autosomal, altered gene product structure and potential IF respectively (PMIDs: ).; to: The DDG2P confidence category for the disease CEROID LIPOFUSCINOSIS, NEURONAL, 6, OMIM:601780 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are biallelic_autosomal, absent gene product and potential IF respectively (PMIDs: 11791207;15996215;11727201). The DDG2P confidence category for the disease CEROID LIPOFUSCINOSIS, NEURONAL, KUFS TYPE, ADULT ONSET, OMIM:204300 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are biallelic_autosomal, altered gene product structure and potential IF respectively. |
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DDG2P v3.15 | AARS | Achchuthan Shanmugasundram Phenotypes for gene: AARS were changed from EARLY-ONSET EPILEPTIC ENCEPHALOPATHY WITH PERSISTENT MYELINATION DEFECT to EARLY-ONSET EPILEPTIC ENCEPHALOPATHY WITH PERSISTENT MYELINATION DEFECT | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.15 | AARS | Achchuthan Shanmugasundram Phenotypes for gene: AARS were changed from EARLY-ONSET EPILEPTIC ENCEPHALOPATHY WITH PERSISTENT MYELINATION DEFECT to EARLY-ONSET EPILEPTIC ENCEPHALOPATHY WITH PERSISTENT MYELINATION DEFECT | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.15 | AARS | Achchuthan Shanmugasundram Phenotypes for gene: AARS were changed from EARLY-ONSET EPILEPTIC ENCEPHALOPATHY WITH PERSISTENT MYELINATION DEFECT. to EARLY-ONSET EPILEPTIC ENCEPHALOPATHY WITH PERSISTENT MYELINATION DEFECT | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | ZMYM3 | Achchuthan Shanmugasundram reviewed gene: ZMYM3: Rating: GREEN; Mode of pathogenicity: ; Publications: 36586412; Phenotypes: ZMYM3-related neurodevelopmental disorder; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | ZDHHC15 | Achchuthan Shanmugasundram reviewed gene: ZDHHC15: Rating: RED; Mode of pathogenicity: ; Publications: 15915161; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED TYPE 91, OMIM:300577; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | ZC4H2 | Achchuthan Shanmugasundram reviewed gene: ZC4H2: Rating: GREEN; Mode of pathogenicity: ; Publications: 4039531, 1915520, 31206972, 36250278, 23623388; Phenotypes: ARTHROGRYPOSIS MULTIPLEX CONGENITA AND INTELLECTUAL DISABILITY, OMIM:314580, ARTHROGRYPOSIS MULTIPLEX CONGENITA AND INTELLECTUAL DISABILITY, hemizygous, OMIM:314580; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | YWHAG | Achchuthan Shanmugasundram reviewed gene: YWHAG: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28777935; Phenotypes: Early-Onset Epilepsy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | WDR45 | Achchuthan Shanmugasundram reviewed gene: WDR45: Rating: GREEN; Mode of pathogenicity: ; Publications: 30612247, 28932395, 28371320, 30713886, 30539914, 23176820, 29981852, 26609730, 28551038, 31466010, 27030146, 26790960, 26240209, 28361255, 29171013, 29082105, 29681108, 29600274, 26022463, 27957548, 27681470; Phenotypes: WDR45-RELATED NEURODEGENERATION WITH BRAIN IRON ACCUMULATION; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | USP9X | Achchuthan Shanmugasundram reviewed gene: USP9X: Rating: GREEN; Mode of pathogenicity: ; Publications: 24607389, 31443933, 26833328; Phenotypes: MRX99, OMIM:300919, INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 99, OMIM:300919, INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 99; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | UFM1 | Achchuthan Shanmugasundram reviewed gene: UFM1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29868776; Phenotypes: Severe early-onset encephalopathy with progressive microcephaly,; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | UFC1 | Achchuthan Shanmugasundram reviewed gene: UFC1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29868776; Phenotypes: Severe early-onset encephalopathy with progressive microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | UBTF | Achchuthan Shanmugasundram reviewed gene: UBTF: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28777933; Phenotypes: Childhood-Onset Neurodegeneration; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | UBA5 | Achchuthan Shanmugasundram reviewed gene: UBA5: Rating: GREEN; Mode of pathogenicity: ; Publications: 27545681, 27545674; Phenotypes: Severe Infantile-Onset Encephalopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | TWIST2 | Achchuthan Shanmugasundram reviewed gene: TWIST2: Rating: GREEN; Mode of pathogenicity: ; Publications: 14069095, 26119818, 21931173, 8818454; Phenotypes: SETLEIS SYNDROME, OMIM:227260, ABLEPHARON MACROSTOMIA SYNDROME, OMIM:200110; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | TRAPPC2L | Achchuthan Shanmugasundram reviewed gene: TRAPPC2L: Rating: RED; Mode of pathogenicity: Other; Publications: 32843486, 30120216; Phenotypes: TRAPPC2L-related Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis, OMIM:618331; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | TFE3 | Achchuthan Shanmugasundram reviewed gene: TFE3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30595499, 33057194, 32409512, 31833172; Phenotypes: TFE3-related intellectual disability with pigmentary mosaicism, Intellectual disability with pigmentary mosaicism and storage disorder; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | TBCE | Achchuthan Shanmugasundram reviewed gene: TBCE: Rating: GREEN; Mode of pathogenicity: ; Publications: 12389028, 27666369; Phenotypes: Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy, HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME, OMIM:241410; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | TBCD | Achchuthan Shanmugasundram reviewed gene: TBCD: Rating: GREEN; Mode of pathogenicity: ; Publications: 27666374, 27666370; Phenotypes: Early-Onset Neurodegenerative Encephalopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | TANGO2 | Achchuthan Shanmugasundram reviewed gene: TANGO2: Rating: GREEN; Mode of pathogenicity: ; Publications: 26805782, 26805781; Phenotypes: Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | SYT2 | Achchuthan Shanmugasundram reviewed gene: SYT2: Rating: GREEN; Mode of pathogenicity: ; Publications: 32250532, 32776697; Phenotypes: SYT2-related congenital onset presynaptic myasthenic syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | SOX3 | Achchuthan Shanmugasundram reviewed gene: SOX3: Rating: GREEN; Mode of pathogenicity: ; Publications: 8826446; Phenotypes: SEX REVERSAL TYPE 3, OMIM:300833, INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED WITH ISOLATED GROWTH HORMONE DEFICIENCY, OMIM:300123; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | SMC1A | Achchuthan Shanmugasundram reviewed gene: SMC1A: Rating: GREEN; Mode of pathogenicity: ; Publications: 17273969, 28548707, 24124034, 28102598, 31185419, 22106055, 26358754, 20635401, 28677859, 16604071, 31098032, 28166369, 26386245, 26354354, 26752331; Phenotypes: CORNELIA DE LANGE SYNDROME TYPE 2, OMIM:300590, SMC1A-related Epileptic Encephalopathy; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | SLC35A2 | Achchuthan Shanmugasundram reviewed gene: SLC35A2: Rating: GREEN; Mode of pathogenicity: ; Publications: 24115232; Phenotypes: Epileptic Encephalopathy due to congenital disorder of glycosylation; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | SLC25A4 | Achchuthan Shanmugasundram reviewed gene: SLC25A4: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27693233, 30046662, 30329211; Phenotypes: Fontaine progeroid syndrome, Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | SLC13A5 | Achchuthan Shanmugasundram reviewed gene: SLC13A5: Rating: GREEN; Mode of pathogenicity: ; Publications: 24995870, 26384929; Phenotypes: EPILEPTIC ENCEPHALOPATHY WITH SEIZURE ONSET IN THE FIRST DAYS OF LIFE; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | SETD5 | Achchuthan Shanmugasundram reviewed gene: SETD5: Rating: GREEN; Mode of pathogenicity: ; Publications: 31656537, 28549204, 27375234, 28881385, 24680889, 25138099, 28905509; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 23, OMIM:615761; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | SETD2 | Achchuthan Shanmugasundram reviewed gene: SETD2: Rating: GREEN; Mode of pathogenicity: ; Publications: 34978780, 27317772, 32710489, 24852293; Phenotypes: Rabin-Pappas syndrome, SETD2-associated Overgrowth Syndrome (Luscan-Lumish syndrome); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | SETD1B | Achchuthan Shanmugasundram reviewed gene: SETD1B: Rating: GREEN; Mode of pathogenicity: ; Publications: 32546566, 29322246; Phenotypes: SETD1B associated intellectual disability, epilepsy and autism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | SETD1A | Achchuthan Shanmugasundram reviewed gene: SETD1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | SETBP1 | Achchuthan Shanmugasundram reviewed gene: SETBP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 20436468; Phenotypes: DEVELOPMENTAL AND EXPRESSIVE LANGUAGE DELAY, SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME, OMIM:269150; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | SET | Achchuthan Shanmugasundram reviewed gene: SET: Rating: GREEN; Mode of pathogenicity: ; Publications: 35122673, 29688601, 29907757, 28135719; Phenotypes: SET syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | RTN4IP1 | Achchuthan Shanmugasundram reviewed gene: RTN4IP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 26593267; Phenotypes: EARLY-ONSET RECESSIVE OPTIC NEUROPATHY; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | RPS6KA3 | Achchuthan Shanmugasundram reviewed gene: RPS6KA3: Rating: GREEN; Mode of pathogenicity: ; Publications: 17717706, 10094187, 12439904, 8955270, 9887375, 9837815, 12558110, 10528858, 15214012, 14986828, 11992250; Phenotypes: Coffin-Lowry Syndrome 2 RPS6KA3 XLD, Coffin-Lowry Syndrome 2 RPS6KA3 XLR; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | RNASET2 | Achchuthan Shanmugasundram reviewed gene: RNASET2: Rating: GREEN; Mode of pathogenicity: ; Publications: 19525954; Phenotypes: LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY, OMIM:612951; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | RINT1 | Achchuthan Shanmugasundram reviewed gene: RINT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 31204009; Phenotypes: Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | PYROXD1 | Achchuthan Shanmugasundram reviewed gene: PYROXD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 27745833; Phenotypes: Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | PTRH2 | Achchuthan Shanmugasundram reviewed gene: PTRH2: Rating: GREEN; Mode of pathogenicity: ; Publications: 31057140, 27129381, 25574476, 25558065, 28328138; Phenotypes: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET, OMIM:616263; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | PORCN | Achchuthan Shanmugasundram reviewed gene: PORCN: Rating: GREEN; Mode of pathogenicity: ; Publications: 18325042, 17546031, 17546030; Phenotypes: FOCAL DERMAL HYPOPLASIA, OMIM:305600; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | PIGQ | Achchuthan Shanmugasundram reviewed gene: PIGQ: Rating: RED; Mode of pathogenicity: ; Publications: 24463883; Phenotypes: SEVERE EARLY-ONSET EPILEPSY; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | PHF6 | Achchuthan Shanmugasundram reviewed gene: PHF6: Rating: GREEN; Mode of pathogenicity: ; Publications: 35662002, 15466013, 12415272, 15994862; Phenotypes: BOERJESON-FORSSMAN-LEHMANN SYNDROME, OMIM:301900; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | PDHA1 | Achchuthan Shanmugasundram reviewed gene: PDHA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 8199595, 1909778, 1909401, 3137520, 10486093, 1293379, 12379317, 9686362, 7573035, 1907799, 2378353, 2537010, 8771169, 8032855; Phenotypes: INTELLECTUAL DISABILTIY, OMIM:312170, PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY IN FEMALES, OMIM:312170; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | PDE10A | Achchuthan Shanmugasundram reviewed gene: PDE10A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27058447; Phenotypes: Childhood-Onset Chorea with Bilateral Striatal Lesions; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | PCDH19 | Achchuthan Shanmugasundram reviewed gene: PCDH19: Rating: GREEN; Mode of pathogenicity: ; Publications: 18469813, 19752159, 5116697, 19214208; Phenotypes: EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 9, OMIM:300088; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | OGT | Achchuthan Shanmugasundram reviewed gene: OGT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: OGT-related developmental disorder (hemizygous), OGT-related developmental disorder (X-linked dominant); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | OFD1 | Achchuthan Shanmugasundram reviewed gene: OFD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 11950863, 15221448, 19800048, 9482645, 22353940, 16783569, 11179005, 9198060; Phenotypes: ORAL-FACIAL-DIGITAL SYNDROME TYPE 1, OMIM:311200, JOUBERT SYNDROME TYPE 10, OMIM:300804; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | NUP54 | Achchuthan Shanmugasundram reviewed gene: NUP54: Rating: GREEN; Mode of pathogenicity: Other; Publications: 36333996; Phenotypes: NUP54-related early-onset dystonia with striatal lesions; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | NSDHL | Achchuthan Shanmugasundram reviewed gene: NSDHL: Rating: GREEN; Mode of pathogenicity: ; Publications: 19377476, 11907515, 19842190, 10710235; Phenotypes: CK SYNDROME, OMIM:300831, CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS, OMIM:308050; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | NRROS | Achchuthan Shanmugasundram reviewed gene: NRROS: Rating: GREEN; Mode of pathogenicity: ; Publications: 32197075; Phenotypes: NRROS-related Infantile-Onset Neurodegeneration with Intracranial Calcification; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | NEXMIF | Achchuthan Shanmugasundram reviewed gene: NEXMIF: Rating: GREEN; Mode of pathogenicity: ; Publications: 33144681, 23615299, 26576034, 15466006, 27568816, 27358180; Phenotypes: NEXMIF-related Intellectual disability and epilepsy (XLR), OMIM:300912, NEXMIF-related Intellectual disability and epilepsy (XLD); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | NDUFB11 | Achchuthan Shanmugasundram reviewed gene: NDUFB11: Rating: GREEN; Mode of pathogenicity: ; Publications: 25772934; Phenotypes: MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME, OMIM:309801; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | NDUFA6 | Achchuthan Shanmugasundram reviewed gene: NDUFA6: Rating: GREEN; Mode of pathogenicity: ; Publications: 30245030; Phenotypes: Early Onset Isolated Mitochondrial Complex I Deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | NANS | Achchuthan Shanmugasundram reviewed gene: NANS: Rating: GREEN; Mode of pathogenicity: ; Publications: 27213289; Phenotypes: infantile-onset severe developmental delay and skeletal dysplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | NAA10 | Achchuthan Shanmugasundram reviewed gene: NAA10: Rating: GREEN; Mode of pathogenicity: ; Publications: 24431331, 30842225, 21700266, 25099252; Phenotypes: X-linked anophthalmia syndrome, OGDEN SYNDROME, OMIM:300855, NONPECIFIC SEVERE ID; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | MYPN | Achchuthan Shanmugasundram reviewed gene: MYPN: Rating: GREEN; Mode of pathogenicity: ; Publications: 28017374; Phenotypes: Childhood-Onset, Slowly Progressive Nemaline Myopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | MSL3 | Achchuthan Shanmugasundram reviewed gene: MSL3: Rating: GREEN; Mode of pathogenicity: ; Publications: 30224647; Phenotypes: MSL3 syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | MEGF10 | Achchuthan Shanmugasundram reviewed gene: MEGF10: Rating: GREEN; Mode of pathogenicity: ; Publications: 17236770, 22101682, 22371254; Phenotypes: MYOPATHY, EARLY-ONSET, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, OMIM:614399; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | MED12 | Achchuthan Shanmugasundram reviewed gene: MED12: Rating: GREEN; Mode of pathogenicity: ; Publications: 33244166, 31536828, 6711603, 17369503, 24123922, 17334363, 24715367, 28544239, 27980443, 27312080, 33244165, 30006928, 27286923, 27500536, 35385210; Phenotypes: LUJAN-FRYNS SYNDROME, OMIM:309520, OPITZ-KAVEGGIA SYNDROME, OMIM:305450, MED12-related developmental disorder; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | MECR | Achchuthan Shanmugasundram reviewed gene: MECR: Rating: GREEN; Mode of pathogenicity: ; Publications: 27817865; Phenotypes: Childhood-Onset Dystonia and Optic Atrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | MECP2 | Achchuthan Shanmugasundram reviewed gene: MECP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 15689435, 10232754, 11313756, 11402105, 19034540, 11007980, 9377804, 10814718, 15034579, 10854091, 29618507, 11238684, 16966553, 12481990, 10508514, 10767337, 11022934, 16630165, 12615169, 15857422, 18989701, 10577905, 11930274, 11807877, 11214906; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER SYNDROMIC X-LINKED LUBS TYPE, OMIM:300260, CHROMOSOME XQ28 DUPLICATION SYNDROME, OMIM:300815, RETT SYNDROME (RTT), OMIM:312750, ENCEPHALOPATHY NEONATAL SEVERE DUE TO MECP2 MUTATIONS, OMIM:300673; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | MDH2 | Achchuthan Shanmugasundram reviewed gene: MDH2: Rating: GREEN; Mode of pathogenicity: ; Publications: 27989324; Phenotypes: Early-Onset Severe Encephalopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | MAGI2 | Achchuthan Shanmugasundram reviewed gene: MAGI2: Rating: RED; Mode of pathogenicity: ; Publications: 18565486; Phenotypes: EARLY ONSET EPILEPTIC ENCEPHALOPATHY; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | LRBA | Achchuthan Shanmugasundram reviewed gene: LRBA: Rating: GREEN; Mode of pathogenicity: ; Publications: 22608502; Phenotypes: CHILDHOOD-ONSET HYPOGAMMAGLOBULINEMIA, OMIM:614700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | LIAS | Achchuthan Shanmugasundram reviewed gene: LIAS: Rating: GREEN; Mode of pathogenicity: Other; Publications: 22152680, 26108146; Phenotypes: Neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | KMT2B | Achchuthan Shanmugasundram reviewed gene: KMT2B: Rating: GREEN; Mode of pathogenicity: ; Publications: 27839873, 27992417; Phenotypes: Complex early-onset dystonia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | KLHL7 | Achchuthan Shanmugasundram reviewed gene: KLHL7: Rating: GREEN; Mode of pathogenicity: ; Publications: 29074562, 27392078; Phenotypes: Cold-induced sweating syndrome type 1 (CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa), Crisponi/CISS1-like phenotype associated with early-onset retinitis pigmentosa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | KLF8 | Achchuthan Shanmugasundram reviewed gene: KLF8: Rating: RED; Mode of pathogenicity: ; Publications: 22495311; Phenotypes: NONSYNDROMIC INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | KDM6A | Achchuthan Shanmugasundram reviewed gene: KDM6A: Rating: GREEN; Mode of pathogenicity: ; Publications: 23076834, 22197486; Phenotypes: KABUKI SYNDROME 2, OMIM:300867; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | IQSEC2 | Achchuthan Shanmugasundram reviewed gene: IQSEC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 24306141, 26793055, 29026562, 26733290, 27665735, 30206421, 23674175, 31415821, 31490346, 31829726, 28295038, 20473311, 28815955, 30666632; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED TYPE 1, OMIM:309530; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | IKBKG | Achchuthan Shanmugasundram reviewed gene: IKBKG: Rating: GREEN; Mode of pathogenicity: ; Publications: 10839543, 16228229, 11242109, 11224521, 9450877, 15356572, 12045264, 14726382, 15577852, 117248, 16818673, 11047757; Phenotypes: ECTODERMAL DYSPLASIA ANHIDROTIC WITH IMMUNODEFICIENCY X-LINKED, OMIM:300291, INCONTINENTIA PIGMENTI, OMIM:308300; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | IARS | Achchuthan Shanmugasundram reviewed gene: IARS: Rating: GREEN; Mode of pathogenicity: ; Publications: 27426735; Phenotypes: Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | HUWE1 | Achchuthan Shanmugasundram reviewed gene: HUWE1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29180823, 18252223, 23721686; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER SYNDROMIC X-LINKED TURNER TYPE, OMIM:300706; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | HTRA2 | Achchuthan Shanmugasundram reviewed gene: HTRA2: Rating: RED; Mode of pathogenicity: ; Publications: 27696117; Phenotypes: Early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | HNRNPH2 | Achchuthan Shanmugasundram reviewed gene: HNRNPH2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27545675; Phenotypes: Neurodevelopmental Disorder in Females; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | HNRNPA2B1 | Achchuthan Shanmugasundram reviewed gene: HNRNPA2B1: Rating: GREEN; Mode of pathogenicity: ; Publications: 35484142; Phenotypes: Early-onset oculopharyngeal muscular dystrophy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | HNF4A | Achchuthan Shanmugasundram reviewed gene: HNF4A: Rating: GREEN; Mode of pathogenicity: ; Publications: 8945471, 24285859; Phenotypes: HNF4A-RELATED MATURITY-ONSET DIABETES OF THE YOUNG TYPE 1, OMIM:125850, ATYPICAL DOMINANT FANCONI SYNDROME WITH MODY, OMIM:315353; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | HDAC8 | Achchuthan Shanmugasundram reviewed gene: HDAC8: Rating: GREEN; Mode of pathogenicity: ; Publications: 29279609, 25102094, 29991052, 22885700, 29519750, 26671848, 24403048; Phenotypes: CORNELIA DE LANGE-LIKE SYNDROME HDAC8 XLR, Cornelia de Lange Syndrome HDAC8 X-linked dominant; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | HCCS | Achchuthan Shanmugasundram reviewed gene: HCCS: Rating: GREEN; Mode of pathogenicity: ; Publications: 17033964; Phenotypes: MICROPHTHALMIA SYNDROMIC TYPE 7, OMIM:309801; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | FMR1 | Achchuthan Shanmugasundram reviewed gene: FMR1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: FRAGILE X TREMOR/ATAXIA SYNDROME, OMIM:300623, PREMATURE OVARIAN FAILURE SYNDROME TYPE 1, OMIM:311360, FRAGILE X SYNDROME, OMIM:300624; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | FLNA | Achchuthan Shanmugasundram reviewed gene: FLNA: Rating: GREEN; Mode of pathogenicity: ; Publications: 23934111, 16596676, 8644737, 20301567, 11914408, 16299064, 11532987, 8290091, 9883725, 28498505, 10982965, 23032111, 17632775, 17431908, 23037936, 18854860, 15654694, 14988809, 15940695, 12612583, 20014127; Phenotypes: X-LINKED CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, OMIM:300048, MELNICK-NEEDLES SYNDROME, OMIM:309350, Otopalatodigital Syndrome, PERIVENTRICULAR NODULAR HETEROTOPIA TYPE 1, OMIM:300049, TERMINAL OSSEOUS DYSPLASIA, OMIM:300244, FRONTOMETAPHYSEAL DYSPLASIA, OMIM:305620, EPILEPTIC ENCEPHALOPATHY; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | FAM58A | Achchuthan Shanmugasundram reviewed gene: FAM58A: Rating: GREEN; Mode of pathogenicity: ; Publications: 18297069, 28322501, 8818947; Phenotypes: STAR SYNDROME, OMIM:300707; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | EFNB1 | Achchuthan Shanmugasundram reviewed gene: EFNB1: Rating: GREEN; Mode of pathogenicity: ; Publications: 15124102, 15166289, 16685650; Phenotypes: CRANIOFRONTONASAL SYNDROME, OMIM:304110; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | EBP | Achchuthan Shanmugasundram reviewed gene: EBP: Rating: GREEN; Mode of pathogenicity: ; Publications: 10942423, 10391218, 11038443, 10391219, 12503101; Phenotypes: CHONDRODYSPLASIA PUNCTATA 2, X-LINKED, OMIM:302960; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | DDX3X | Achchuthan Shanmugasundram reviewed gene: DDX3X: Rating: GREEN; Mode of pathogenicity: ; Publications: 25533962, 30734472, 28371085, 30349862, 29490693, 26235985; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 102, OMIM:300958, INTELLECTUAL DISABILITY; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | DCX | Achchuthan Shanmugasundram reviewed gene: DCX: Rating: GREEN; Mode of pathogenicity: ; Publications: 10441340, 9489700, 9489699, 12552055, 11468322; Phenotypes: SUBCORTICAL BAND HETEROTOPIA X-LINKED, OMIM:300067, LISSENCEPHALY X-LINKED TYPE 1, OMIM:300067; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | COX7B | Achchuthan Shanmugasundram reviewed gene: COX7B: Rating: GREEN; Mode of pathogenicity: ; Publications: 9747372, 23122588; Phenotypes: MICROPHTHALMIA WITH LINEAR SKIN LESIONS, OMIM:300887; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | CNPY3 | Achchuthan Shanmugasundram reviewed gene: CNPY3: Rating: GREEN; Mode of pathogenicity: ; Publications: 29394991; Phenotypes: EARLY ONSET EPILEPTIC ENCEPHALOPATHY; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | CLN6 | Achchuthan Shanmugasundram reviewed gene: CLN6: Rating: GREEN; Mode of pathogenicity: ; Publications: 11727201, 15996215, 11791207; Phenotypes: CEROID LIPOFUSCINOSIS, NEURONAL, 6, OMIM:601780, CEROID LIPOFUSCINOSIS, NEURONAL, KUFS TYPE, ADULT ONSET, OMIM:204300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | CDKL5 | Achchuthan Shanmugasundram reviewed gene: CDKL5: Rating: GREEN; Mode of pathogenicity: ; Publications: 19241098, 35934918, 17993579, 18809835, 15499549, 15689447, 19793311, 15492925, 16611748, 16813600, 19396824; Phenotypes: EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 2, OMIM:300672; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | CDK16 | Achchuthan Shanmugasundram reviewed gene: CDK16: Rating: RED; Mode of pathogenicity: ; Publications: 25644381, 36323681; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | CASK | Achchuthan Shanmugasundram reviewed gene: CASK: Rating: GREEN; Mode of pathogenicity: ; Publications: 34085948, 19200522, 19165920, 21954287, 19377476, 20029458; Phenotypes: MRX WITH/WITHOUT NYSTAGMUS, OMIM:300749, FG SYNDROME TYPE 4, OMIM:300422, INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED CASK-RELATED, OMIM:300749; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | C1QBP | Achchuthan Shanmugasundram reviewed gene: C1QBP: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28942965; Phenotypes: Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | BCOR | Achchuthan Shanmugasundram reviewed gene: BCOR: Rating: GREEN; Mode of pathogenicity: ; Publications: 29974297, 28317252, 19367324, 15957158, 31048080, 15004558, 15770227; Phenotypes: MICROPHTHALMIA SYNDROMIC TYPE 2, OMIM:300166; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | ARHGEF9 | Achchuthan Shanmugasundram reviewed gene: ARHGEF9: Rating: GREEN; Mode of pathogenicity: ; Publications: 21633362, 28589176; Phenotypes: ARHGEF9-related developmental disorder (X-linked dominant); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | AMER1 | Achchuthan Shanmugasundram reviewed gene: AMER1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19079258; Phenotypes: OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS, OMIM:300373; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | ALG13 | Achchuthan Shanmugasundram reviewed gene: ALG13: Rating: GREEN; Mode of pathogenicity: Other; Publications: 22492991, 23934111, 28887793; Phenotypes: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IS, OMIM:300884; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | AGTPBP1 | Achchuthan Shanmugasundram reviewed gene: AGTPBP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 30420557, 30976113, 31102495, 28600779; Phenotypes: NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY, OMIM:618276; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | AARS | Achchuthan Shanmugasundram reviewed gene: AARS: Rating: GREEN; Mode of pathogenicity: ; Publications: 25817015, 34446925; Phenotypes: EARLY-ONSET EPILEPTIC ENCEPHALOPATHY WITH PERSISTENT MYELINATION DEFECT; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.11 | ZNF407 |
Achchuthan Shanmugasundram gene: ZNF407 was added gene: ZNF407 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: ZNF407 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZNF407 were set to 24907849; 32737394 Phenotypes for gene: ZNF407 were set to ZNF407-related Neurodevelopmental Disorder Mode of pathogenicity for gene: ZNF407 was set to Other |
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DDG2P v3.11 | ZNF292 |
Achchuthan Shanmugasundram gene: ZNF292 was added gene: ZNF292 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ZNF292 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ZNF292 were set to ZNF292-related developmental disorder (monoallelic) |
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DDG2P v3.11 | ZNF148 |
Achchuthan Shanmugasundram gene: ZNF148 was added gene: ZNF148 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ZNF148 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ZNF148 were set to ZNF148-related developmental disorder (monoallelic) |
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DDG2P v3.11 | ZNF142 |
Achchuthan Shanmugasundram gene: ZNF142 was added gene: ZNF142 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ZNF142 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZNF142 were set to 31036918; 35616059 Phenotypes for gene: ZNF142 were set to ZNF142-related neurodevelopmental disorder, OMIM:618425 |
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DDG2P v3.11 | ZMYND8 |
Achchuthan Shanmugasundram gene: ZMYND8 was added gene: ZMYND8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ZMYND8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ZMYND8 were set to 35916866 Phenotypes for gene: ZMYND8 were set to ZMYND8-related neurodevelopmental disorder Mode of pathogenicity for gene: ZMYND8 was set to Other |
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DDG2P v3.11 | ZMYM3 |
Achchuthan Shanmugasundram gene: ZMYM3 was added gene: ZMYM3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ZMYM3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: ZMYM3 were set to 36586412 Phenotypes for gene: ZMYM3 were set to ZMYM3-related neurodevelopmental disorder |
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DDG2P v3.11 | ZMYM2 |
Achchuthan Shanmugasundram gene: ZMYM2 was added gene: ZMYM2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ZMYM2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ZMYM2 were set to 32891193 Phenotypes for gene: ZMYM2 were set to ZMYM2-related developmental disorder (monoallelic) |
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DDG2P v3.11 | ZFYVE19 |
Achchuthan Shanmugasundram gene: ZFYVE19 was added gene: ZFYVE19 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ZFYVE19 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZFYVE19 were set to 32737136; 33853651 Phenotypes for gene: ZFYVE19 were set to ZFYVE19-related congenital hepatic fibrosis, sclerosing cholangiopathy and high-GGT cholestasis |
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DDG2P v3.11 | ZFHX4 |
Achchuthan Shanmugasundram gene: ZFHX4 was added gene: ZFHX4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ZFHX4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ZFHX4 were set to 11935336; 33057194 Phenotypes for gene: ZFHX4 were set to ZFHX4-related developmental disorder (monoallelic) |
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DDG2P v3.11 | ZFHX3 |
Achchuthan Shanmugasundram gene: ZFHX3 was added gene: ZFHX3 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: ZFHX3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ZFHX3 were set to 32502225; 30809043 Phenotypes for gene: ZFHX3 were set to ZFHX3-related developmental disorder (monoallelic) |
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DDG2P v3.11 | ZBTB7A |
Achchuthan Shanmugasundram gene: ZBTB7A was added gene: ZBTB7A was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: ZBTB7A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ZBTB7A were set to 31645653; 34515416 Phenotypes for gene: ZBTB7A were set to ZBTB7A-associated developmental disorder |
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DDG2P v3.11 | YRDC |
Achchuthan Shanmugasundram gene: YRDC was added gene: YRDC was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: YRDC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: YRDC were set to 31481669; 34545459 Phenotypes for gene: YRDC were set to YRDC-associated nephrotic syndrome and microcephaly |
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DDG2P v3.11 | YARS2 |
Achchuthan Shanmugasundram gene: YARS2 was added gene: YARS2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: YARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: YARS2 were set to 23918765; 30026338; 20598274 Phenotypes for gene: YARS2 were set to MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2, OMIM:613561 |
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DDG2P v3.11 | WNK3 |
Achchuthan Shanmugasundram gene: WNK3 was added gene: WNK3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: WNK3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: WNK3 were set to 35678782 Phenotypes for gene: WNK3 were set to WNK3-related neurodevelopmental disorder |
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DDG2P v3.11 | WFS1 |
Achchuthan Shanmugasundram gene: WFS1 was added gene: WFS1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: WFS1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: WFS1 were set to 21067485; 25390390; 17568405; 22311385; 22226368; 10521293; 23373429; 15605410; 18806274; 14724730; 21726277; 11295831; 15151504; 18544103; 16442662; 21823543; 21564155; 15503287; 11161832; 22781099; 19042979; 15277431; 16648378; 12107816; 21623591; 15070927; 22238590; 21446023; 19160074; 23103830; 21538838; 21968327; 21602428; 9771706; 12707373; 11317648; 16151413; 20069065; 18660851; 20875904; 16459465 Phenotypes for gene: WFS1 were set to Wolfram-like syndrome, autosomal dominant, OMIM:614296; WOLFRAM SYNDROME 1, OMIM:222300 |
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DDG2P v3.11 | WDR5 |
Achchuthan Shanmugasundram gene: WDR5 was added gene: WDR5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: WDR5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: WDR5 were set to 36408368 Phenotypes for gene: WDR5 were set to WDR5-related neurodevelopmental disorder Mode of pathogenicity for gene: WDR5 was set to Other |
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DDG2P v3.11 | WASHC5 |
Achchuthan Shanmugasundram gene: WASHC5 was added gene: WASHC5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: WASHC5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WASHC5 were set to 24065355 Phenotypes for gene: WASHC5 were set to WASHC5-associated intellectual disability, congenital cardiac malformation and Dandy-Walker malformation, OMIM:220210 |
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DDG2P v3.11 | WARS |
Achchuthan Shanmugasundram gene: WARS was added gene: WARS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: WARS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: WARS were set to 28369220; 31321409; 31069783; 35815345 Phenotypes for gene: WARS were set to WARS1-associated neurodevelopmental syndrome; Distal hereditary motor neuropathy |
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DDG2P v3.11 | VPS4A |
Achchuthan Shanmugasundram gene: VPS4A was added gene: VPS4A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: VPS4A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: VPS4A were set to 33186543; 33186545 Phenotypes for gene: VPS4A were set to CIMDAG Syndrome, biallelic; CIMDAG Syndrome, monoallelic Mode of pathogenicity for gene: VPS4A was set to Other |
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DDG2P v3.11 | VCP |
Achchuthan Shanmugasundram gene: VCP was added gene: VCP was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: VCP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: VCP were set to VCP-related developmental disorder (monoallelic) |
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DDG2P v3.11 | USP14 |
Achchuthan Shanmugasundram gene: USP14 was added gene: USP14 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: USP14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: USP14 were set to 35066879 Phenotypes for gene: USP14 were set to DISTAL ARTHROGRYPOSIS Mode of pathogenicity for gene: USP14 was set to Other |
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DDG2P v3.11 | UQCRFS1 |
Achchuthan Shanmugasundram gene: UQCRFS1 was added gene: UQCRFS1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: UQCRFS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UQCRFS1 were set to 31883641 Phenotypes for gene: UQCRFS1 were set to Mitochondrial Complex III Deficiency, Cardiomyopathy, and Alopecia Totalis |
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DDG2P v3.11 | UPF1 |
Achchuthan Shanmugasundram gene: UPF1 was added gene: UPF1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: UPF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: UPF1 were set to 33057194 Phenotypes for gene: UPF1 were set to UPF1-related developmental disorder (monoallelic) |
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DDG2P v3.11 | UNC45B |
Achchuthan Shanmugasundram gene: UNC45B was added gene: UNC45B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: UNC45B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UNC45B were set to 33217308 Phenotypes for gene: UNC45B were set to UNC45B-associated Progressive Myopathy with Eccentric Cores Mode of pathogenicity for gene: UNC45B was set to Other |
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DDG2P v3.11 | UNC45A |
Achchuthan Shanmugasundram gene: UNC45A was added gene: UNC45A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: UNC45A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UNC45A were set to 35575086 Phenotypes for gene: UNC45A were set to Osteootohepatoenteric syndrome |
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DDG2P v3.11 | UHRF1 |
Achchuthan Shanmugasundram gene: UHRF1 was added gene: UHRF1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: UHRF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UHRF1 were set to 36458887 Phenotypes for gene: UHRF1 were set to UHRF1-related immunodeficiency-centromeric instability-facial anomalies syndrome Mode of pathogenicity for gene: UHRF1 was set to Other |
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DDG2P v3.11 | UGP2 |
Achchuthan Shanmugasundram gene: UGP2 was added gene: UGP2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: UGP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UGP2 were set to 31820119 Phenotypes for gene: UGP2 were set to UGP2 Epileptic Encephalopathy |
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DDG2P v3.11 | UFSP2 |
Achchuthan Shanmugasundram gene: UFSP2 was added gene: UFSP2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: UFSP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UFSP2 were set to 33473208 Phenotypes for gene: UFSP2 were set to UFSP2-associated developmental delay and epilepsy Mode of pathogenicity for gene: UFSP2 was set to Other |
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DDG2P v3.11 | UBE4A |
Achchuthan Shanmugasundram gene: UBE4A was added gene: UBE4A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: UBE4A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UBE4A were set to 33420346 Phenotypes for gene: UBE4A were set to UBE4A-associated neurodevelopmental disorder |
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DDG2P v3.11 | UBAP2L |
Achchuthan Shanmugasundram gene: UBAP2L was added gene: UBAP2L was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: UBAP2L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: UBAP2L were set to 35977029 Phenotypes for gene: UBAP2L were set to UBAP2L-associated neurodevelopmental disorder |
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DDG2P v3.11 | U2AF2 |
Achchuthan Shanmugasundram gene: U2AF2 was added gene: U2AF2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: U2AF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: U2AF2 were set to 33057194 Phenotypes for gene: U2AF2 were set to U2AF2-related developmental disorder (monoallelic) Mode of pathogenicity for gene: U2AF2 was set to Other |
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DDG2P v3.11 | TUBGCP2 |
Achchuthan Shanmugasundram gene: TUBGCP2 was added gene: TUBGCP2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TUBGCP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TUBGCP2 were set to 31630790 Phenotypes for gene: TUBGCP2 were set to Microcephaly and Lissencephaly Spectrum Disorders Mode of pathogenicity for gene: TUBGCP2 was set to Other |
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DDG2P v3.11 | TTC5 |
Achchuthan Shanmugasundram gene: TTC5 was added gene: TTC5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TTC5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TTC5 were set to 32439809 Phenotypes for gene: TTC5 were set to TTC5-associated neurodevelopmental disorder |
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DDG2P v3.11 | TTC12 |
Achchuthan Shanmugasundram gene: TTC12 was added gene: TTC12 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: TTC12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TTC12 were set to 31978331 Phenotypes for gene: TTC12 were set to TTC12-related Primary Ciliary Dyskinesia |
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DDG2P v3.11 | TRPM3 |
Achchuthan Shanmugasundram gene: TRPM3 was added gene: TRPM3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TRPM3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TRPM3 were set to 36648066; 32439617; 34438093; 35146895; 31278393 Phenotypes for gene: TRPM3 were set to TRPM3-related developmental disorder (monoallelic) Mode of pathogenicity for gene: TRPM3 was set to Other |
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DDG2P v3.11 | TRPC5 |
Achchuthan Shanmugasundram gene: TRPC5 was added gene: TRPC5 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: TRPC5 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: TRPC5 were set to 36323681 Phenotypes for gene: TRPC5 were set to TRPC5-related neurodevelopmental disorder |
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DDG2P v3.11 | TRNT1 |
Achchuthan Shanmugasundram gene: TRNT1 was added gene: TRNT1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TRNT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRNT1 were set to 25193871; 29170023; 27370603; 32592741; 33936027; 27389523; 32181284; 26494905; 33843817; 30758723 Phenotypes for gene: TRNT1 were set to Retinitis pigmentosa and erythrocytic microcytosis, OMIM:616959 |
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DDG2P v3.11 | TRMT10A |
Achchuthan Shanmugasundram gene: TRMT10A was added gene: TRMT10A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TRMT10A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRMT10A were set to 26526202; 25053765; 24204302; 26535115 Phenotypes for gene: TRMT10A were set to INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 68, OMIM:618302 |
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DDG2P v3.11 | TRIM8 |
Achchuthan Shanmugasundram gene: TRIM8 was added gene: TRIM8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TRIM8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TRIM8 were set to 32531461; 30244534; 27346735; 33508234 Phenotypes for gene: TRIM8 were set to TRIM8-related neurodevelopmental disorder |
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DDG2P v3.11 | TRAPPC4 |
Achchuthan Shanmugasundram gene: TRAPPC4 was added gene: TRAPPC4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TRAPPC4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRAPPC4 were set to 33011761; 32125366; 31794024 Phenotypes for gene: TRAPPC4 were set to Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy, OMIM:618741 |
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DDG2P v3.11 | TRAPPC2L |
Achchuthan Shanmugasundram gene: TRAPPC2L was added gene: TRAPPC2L was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: TRAPPC2L was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRAPPC2L were set to 32843486; 30120216 Phenotypes for gene: TRAPPC2L were set to TRAPPC2L-related Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis, OMIM:618331 Mode of pathogenicity for gene: TRAPPC2L was set to Other |
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DDG2P v3.11 | TRAPPC10 |
Achchuthan Shanmugasundram gene: TRAPPC10 was added gene: TRAPPC10 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: TRAPPC10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRAPPC10 were set to 30167849 Phenotypes for gene: TRAPPC10 were set to TRAPPC10-associated intellectual disability Mode of pathogenicity for gene: TRAPPC10 was set to Other |
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DDG2P v3.11 | TRA2B |
Achchuthan Shanmugasundram gene: TRA2B was added gene: TRA2B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TRA2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TRA2B were set to 36549593 Phenotypes for gene: TRA2B were set to TRA2B-associated neurodevelopmental syndrome Mode of pathogenicity for gene: TRA2B was set to Other |
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DDG2P v3.11 | TPM3 |
Achchuthan Shanmugasundram gene: TPM3 was added gene: TPM3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TPM3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TPM3 were set to 33768912; 24692096 Phenotypes for gene: TPM3 were set to Nemaline/Cap myopathy Mode of pathogenicity for gene: TPM3 was set to Other |
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DDG2P v3.11 | TP73 |
Achchuthan Shanmugasundram gene: TP73 was added gene: TP73 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TP73 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TP73 were set to 34077761 Phenotypes for gene: TP73 were set to TP73-related ciliary dyskinesia and lissencephaly, OMIM:619466 |
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DDG2P v3.11 | TOGARAM1 |
Achchuthan Shanmugasundram gene: TOGARAM1 was added gene: TOGARAM1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TOGARAM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TOGARAM1 were set to 32747439; 32453716 Phenotypes for gene: TOGARAM1 were set to TOGARAM1-related ciliopathy |
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DDG2P v3.11 | TNRC6B |
Achchuthan Shanmugasundram gene: TNRC6B was added gene: TNRC6B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TNRC6B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TNRC6B were set to 32152250 Phenotypes for gene: TNRC6B were set to TNRC6B-related neurodevelopmental disorder |
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DDG2P v3.11 | TNPO2 |
Achchuthan Shanmugasundram gene: TNPO2 was added gene: TNPO2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: TNPO2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TNPO2 were set to 34314705 Phenotypes for gene: TNPO2 were set to TNPO2-related intellectual disability Mode of pathogenicity for gene: TNPO2 was set to Other |
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DDG2P v3.11 | TNNT3 |
Achchuthan Shanmugasundram gene: TNNT3 was added gene: TNNT3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TNNT3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TNNT3 were set to 33977145; 29266598 Phenotypes for gene: TNNT3 were set to TNNT3-associated congenital myopathy (biallelic) |
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DDG2P v3.11 | TMX2 |
Achchuthan Shanmugasundram gene: TMX2 was added gene: TMX2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TMX2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMX2 were set to 31735293 Phenotypes for gene: TMX2 were set to Primary microcephaly, cortical malformation and epileptic encephalopathy |
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DDG2P v3.11 | TMEM63C |
Achchuthan Shanmugasundram gene: TMEM63C was added gene: TMEM63C was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TMEM63C was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM63C were set to 35718349 Phenotypes for gene: TMEM63C were set to TMEM63C-associated hereditary spastic paraplegia |
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DDG2P v3.11 | TMEM63A |
Achchuthan Shanmugasundram gene: TMEM63A was added gene: TMEM63A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TMEM63A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TMEM63A were set to 31587869 Phenotypes for gene: TMEM63A were set to Transient Hypomyelination during Infancy Mode of pathogenicity for gene: TMEM63A was set to Other |
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DDG2P v3.11 | TMEM251 |
Achchuthan Shanmugasundram gene: TMEM251 was added gene: TMEM251 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TMEM251 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM251 were set to 33252156 Phenotypes for gene: TMEM251 were set to TMEM251-related skeletal dysplasia |
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DDG2P v3.11 | TMEM240 |
Achchuthan Shanmugasundram gene: TMEM240 was added gene: TMEM240 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TMEM240 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TMEM240 were set to 30522958; 25070513; 29687291; 32705938; 26813285 Phenotypes for gene: TMEM240 were set to TMEM240-associated spinocerebellar ataxia and intellectual disability, OMIM:607454 |
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DDG2P v3.11 | TMEM222 |
Achchuthan Shanmugasundram gene: TMEM222 was added gene: TMEM222 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TMEM222 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM222 were set to 33824500 Phenotypes for gene: TMEM222 were set to TMEM222-related Neurodevelopmental disorder with motor and speech delay and behavioral abnormalities, OMIM:619470 |
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DDG2P v3.11 | TMEM218 |
Achchuthan Shanmugasundram gene: TMEM218 was added gene: TMEM218 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TMEM218 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM218 were set to 35137054; 33791682 Phenotypes for gene: TMEM218 were set to TMEM218-associated ciliopathy |
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DDG2P v3.11 | TMEM163 |
Achchuthan Shanmugasundram gene: TMEM163 was added gene: TMEM163 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TMEM163 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TMEM163 were set to 35953447; 35455965 Phenotypes for gene: TMEM163 were set to TMEM163-related hypomyelinating leukodystrophy Mode of pathogenicity for gene: TMEM163 was set to Other |
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DDG2P v3.11 | TMEM147 |
Achchuthan Shanmugasundram gene: TMEM147 was added gene: TMEM147 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TMEM147 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM147 were set to 36044892 Phenotypes for gene: TMEM147 were set to TMEM147-related developmental disorder |
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DDG2P v3.11 | TMEM106B |
Achchuthan Shanmugasundram gene: TMEM106B was added gene: TMEM106B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TMEM106B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TMEM106B were set to 29444210; 29186371 Phenotypes for gene: TMEM106B were set to TMEM106B related hypomyelinating leukodystrophy Mode of pathogenicity for gene: TMEM106B was set to Other |
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DDG2P v3.11 | TKFC |
Achchuthan Shanmugasundram gene: TKFC was added gene: TKFC was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: TKFC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TKFC were set to 32004446 Phenotypes for gene: TKFC were set to TKFC-related Cataracts and Multisystem Disease |
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DDG2P v3.11 | THUMPD1 |
Achchuthan Shanmugasundram gene: THUMPD1 was added gene: THUMPD1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: THUMPD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: THUMPD1 were set to 35196516 Phenotypes for gene: THUMPD1 were set to THUMPD1 neurodevelopment disorder |
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DDG2P v3.11 | THG1L |
Achchuthan Shanmugasundram gene: THG1L was added gene: THG1L was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: THG1L was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: THG1L were set to 30214071; 27307223; 31168944; 33682303 Phenotypes for gene: THG1L were set to THG1L-associated cerebellar ataxia, OMIM:618800 Mode of pathogenicity for gene: THG1L was set to Other |
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DDG2P v3.11 | TFE3 |
Achchuthan Shanmugasundram gene: TFE3 was added gene: TFE3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TFE3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: TFE3 were set to 30595499; 33057194; 32409512; 31833172 Phenotypes for gene: TFE3 were set to TFE3-related intellectual disability with pigmentary mosaicism; Intellectual disability with pigmentary mosaicism and storage disorder Mode of pathogenicity for gene: TFE3 was set to Other |
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DDG2P v3.11 | TET3 |
Achchuthan Shanmugasundram gene: TET3 was added gene: TET3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TET3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: TET3 were set to 31928709 Phenotypes for gene: TET3 were set to TET3 DNA Demethylation Disorder biallelic; TET3 DNA Demethylation Disorder monoallelic |
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DDG2P v3.11 | TCF7L2 |
Achchuthan Shanmugasundram gene: TCF7L2 was added gene: TCF7L2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TCF7L2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TCF7L2 were set to 34003604; 33057194 Phenotypes for gene: TCF7L2 were set to TCF7L2-related developmental disorder (monoallelic) |
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DDG2P v3.11 | TCEAL1 |
Achchuthan Shanmugasundram gene: TCEAL1 was added gene: TCEAL1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TCEAL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: TCEAL1 were set to 36368327 Phenotypes for gene: TCEAL1 were set to TCEAL1-related neurodevelopmental disorder Mode of pathogenicity for gene: TCEAL1 was set to Other |
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DDG2P v3.11 | TBC1D2B |
Achchuthan Shanmugasundram gene: TBC1D2B was added gene: TBC1D2B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TBC1D2B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TBC1D2B were set to 36029130; 32623794 Phenotypes for gene: TBC1D2B were set to TBC1D2B-related neurodevelopmental disorder |
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DDG2P v3.11 | TASP1 |
Achchuthan Shanmugasundram gene: TASP1 was added gene: TASP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TASP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TASP1 were set to 35512351; 31209944 Phenotypes for gene: TASP1 were set to TASP1-related neurodevelopmental disorder |
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DDG2P v3.11 | TANC2 |
Achchuthan Shanmugasundram gene: TANC2 was added gene: TANC2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: TANC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TANC2 were set to 31616000 Phenotypes for gene: TANC2 were set to TANC2-related neurodevelopmental and psychiatric disorders |
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DDG2P v3.11 | TAF8 |
Achchuthan Shanmugasundram gene: TAF8 was added gene: TAF8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TAF8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TAF8 were set to 35759269 Phenotypes for gene: TAF8 were set to TAF8-associated neurodevelopmental disorder |
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DDG2P v3.11 | SYT2 |
Achchuthan Shanmugasundram gene: SYT2 was added gene: SYT2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SYT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SYT2 were set to 32250532; 32776697 Phenotypes for gene: SYT2 were set to SYT2-related congenital onset presynaptic myasthenic syndrome |
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DDG2P v3.11 | SYNCRIP |
Achchuthan Shanmugasundram gene: SYNCRIP was added gene: SYNCRIP was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: SYNCRIP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SYNCRIP were set to SYNCRIP-related developmental disorder (monoallelic) |
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DDG2P v3.11 | SUPT16H |
Achchuthan Shanmugasundram gene: SUPT16H was added gene: SUPT16H was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: SUPT16H was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SUPT16H were set to 31924697 Phenotypes for gene: SUPT16H were set to SUPT16H-related neurodevelopmental disorder Mode of pathogenicity for gene: SUPT16H was set to Other |
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DDG2P v3.11 | SUOX |
Achchuthan Shanmugasundram gene: SUOX was added gene: SUOX was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SUOX was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SUOX were set to 34117075; 33405344; 34025712; 12112661; 15952210 Phenotypes for gene: SUOX were set to Sulfite oxidase deficiency, OMIM:272300 |
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DDG2P v3.11 | STRADA |
Achchuthan Shanmugasundram gene: STRADA was added gene: STRADA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: STRADA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: STRADA were set to 27170158; 33247513; 17522105; 30311510 Phenotypes for gene: STRADA were set to Polyhydramnios, megalencephaly, and symptomatic epilepsy, OMIM:611087 |
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DDG2P v3.11 | STAC3 |
Achchuthan Shanmugasundram gene: STAC3 was added gene: STAC3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: STAC3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: STAC3 were set to 28777491; 33820833; 30168660; 33060286; 28411587 Phenotypes for gene: STAC3 were set to STAC3-associated congenital myopathy and malignant hyperthermia, OMIM:255995 |
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DDG2P v3.11 | SRSF1 |
Achchuthan Shanmugasundram gene: SRSF1 was added gene: SRSF1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: SRSF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SRSF1 were set to SRSF1-related developmental disorder (monoallelic) |
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DDG2P v3.11 | SRRM2 |
Achchuthan Shanmugasundram gene: SRRM2 was added gene: SRRM2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SRRM2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SRRM2 were set to 33057194; 35567594 Phenotypes for gene: SRRM2 were set to SRRM2-related developmental disorder (monoallelic) |
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DDG2P v3.11 | SPTBN4 |
Achchuthan Shanmugasundram gene: SPTBN4 was added gene: SPTBN4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SPTBN4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPTBN4 were set to 28540413; 29861105; 28940097; 31857255; 31230720 Phenotypes for gene: SPTBN4 were set to NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEUROPATHY, AND DEAFNESS, OMIM:617519 |
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DDG2P v3.11 | SPTBN1 |
Achchuthan Shanmugasundram gene: SPTBN1 was added gene: SPTBN1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SPTBN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SPTBN1 were set to 34211179; 33847457 Phenotypes for gene: SPTBN1 were set to SPTBN1-related developmental disorder (monoallelic) |
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DDG2P v3.11 | SPRY1 |
Achchuthan Shanmugasundram gene: SPRY1 was added gene: SPRY1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: SPRY1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPRY1 were set to 36543535 Phenotypes for gene: SPRY1 were set to SPRY1-associated craniosynostosis with inner ear and renal anomalies Mode of pathogenicity for gene: SPRY1 was set to Other |
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DDG2P v3.11 | SPRED2 |
Achchuthan Shanmugasundram gene: SPRED2 was added gene: SPRED2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SPRED2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPRED2 were set to 34626534 Phenotypes for gene: SPRED2 were set to SPRED2-related Noonan syndrome |
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DDG2P v3.11 | SPOP |
Achchuthan Shanmugasundram gene: SPOP was added gene: SPOP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SPOP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SPOP were set to 32109420 Phenotypes for gene: SPOP were set to SPOP-related Neurodevelopmental Disorder, gain of function; SPOP-related Neurodevelopmental Disorder, dominant negative Mode of pathogenicity for gene: SPOP was set to Other |
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DDG2P v3.11 | SPEN |
Achchuthan Shanmugasundram gene: SPEN was added gene: SPEN was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SPEN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SPEN were set to 33596411; 33057194 Phenotypes for gene: SPEN were set to SPEN-related developmental disorder (monoallelic) |
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DDG2P v3.11 | SPATA5L1 |
Achchuthan Shanmugasundram gene: SPATA5L1 was added gene: SPATA5L1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SPATA5L1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPATA5L1 were set to 34626583 Phenotypes for gene: SPATA5L1 were set to SPATA5L1-associated sensorineural hearing loss and intellectual disability |
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DDG2P v3.11 | SPAST |
Achchuthan Shanmugasundram gene: SPAST was added gene: SPAST was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SPAST was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SPAST were set to SPAST-related developmental disorder (monoallelic) Mode of pathogenicity for gene: SPAST was set to Other |
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DDG2P v3.11 | SOX6 |
Achchuthan Shanmugasundram gene: SOX6 was added gene: SOX6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SOX6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SOX6 were set to 32442410 Phenotypes for gene: SOX6 were set to SOX6-related neurodevelopmental syndrome |
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DDG2P v3.11 | SOS2 |
Achchuthan Shanmugasundram gene: SOS2 was added gene: SOS2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SOS2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SOS2 were set to 26173643; 25795793; 32788663 Phenotypes for gene: SOS2 were set to SOS-2 associated Noonan syndrome, OMIM:616559 Mode of pathogenicity for gene: SOS2 was set to Other |
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DDG2P v3.11 | SMG8 |
Achchuthan Shanmugasundram gene: SMG8 was added gene: SMG8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SMG8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SMG8 were set to 33242396 Phenotypes for gene: SMG8 were set to SMG8-related Developmental Disorder |
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DDG2P v3.11 | SMC5 |
Achchuthan Shanmugasundram gene: SMC5 was added gene: SMC5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SMC5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SMC5 were set to 36333305 Phenotypes for gene: SMC5 were set to SMC5-related developmental disorder Mode of pathogenicity for gene: SMC5 was set to Other |
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DDG2P v3.11 | SLIRP |
Achchuthan Shanmugasundram gene: SLIRP was added gene: SLIRP was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: SLIRP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLIRP were set to 34426662 Phenotypes for gene: SLIRP were set to SLIRP-related mitochondrial encephalomyopathy |
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DDG2P v3.11 | SLF2 |
Achchuthan Shanmugasundram gene: SLF2 was added gene: SLF2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLF2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLF2 were set to 36333305 Phenotypes for gene: SLF2 were set to SLF2-related developmental disorder Mode of pathogenicity for gene: SLF2 was set to Other |
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DDG2P v3.11 | SLC9A7 |
Achchuthan Shanmugasundram gene: SLC9A7 was added gene: SLC9A7 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: SLC9A7 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: SLC9A7 were set to 30335141 Phenotypes for gene: SLC9A7 were set to Intellectual developmental disorder, X-linked 108, OMIM:301024 Mode of pathogenicity for gene: SLC9A7 was set to Other |
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DDG2P v3.11 | SLC5A6 |
Achchuthan Shanmugasundram gene: SLC5A6 was added gene: SLC5A6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC5A6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC5A6 were set to 27904971; 31754459; 35013551 Phenotypes for gene: SLC5A6 were set to SLC5A6-related Neurodevelopmental Disorder |
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DDG2P v3.11 | SLC38A3 |
Achchuthan Shanmugasundram gene: SLC38A3 was added gene: SLC38A3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC38A3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC38A3 were set to 34605855; 36539921 Phenotypes for gene: SLC38A3 were set to SLC38A3-associated epileptic encephalopathy. |
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DDG2P v3.11 | SLC37A4 |
Achchuthan Shanmugasundram gene: SLC37A4 was added gene: SLC37A4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC37A4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SLC37A4 were set to 9758626; 21629566; 28224773; 9428641; 24385852; 31617422; 31508908; 33728255; 32005221; 19579760; 25804016; 33964207 Phenotypes for gene: SLC37A4 were set to SLC37A4-related congenital disorder of glycosylation with liver dysfunction; Glycogen storage disease Ib, OMIM:232220 |
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DDG2P v3.11 | SLC35B2 |
Achchuthan Shanmugasundram gene: SLC35B2 was added gene: SLC35B2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: SLC35B2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC35B2 were set to 35325049 Phenotypes for gene: SLC35B2 were set to SLC35B2-related chondrodysplasia with hypomyelinating leukodystrophy Mode of pathogenicity for gene: SLC35B2 was set to Other |
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DDG2P v3.11 | SLC32A1 |
Achchuthan Shanmugasundram gene: SLC32A1 was added gene: SLC32A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC32A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SLC32A1 were set to 34038384; 36073542 Phenotypes for gene: SLC32A1 were set to SLC32A1-associated developmental and epileptic encephalopathy Mode of pathogenicity for gene: SLC32A1 was set to Other |
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DDG2P v3.11 | SLC30A7 |
Achchuthan Shanmugasundram gene: SLC30A7 was added gene: SLC30A7 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: SLC30A7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SLC30A7 were set to 35751429 Phenotypes for gene: SLC30A7 were set to SLC30A7-associated Joubert syndrome Mode of pathogenicity for gene: SLC30A7 was set to Other |
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DDG2P v3.11 | SLC25A42 |
Achchuthan Shanmugasundram gene: SLC25A42 was added gene: SLC25A42 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC25A42 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A42 were set to 29923093; 29327420; 26541337 Phenotypes for gene: SLC25A42 were set to SLC25A42-associated metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression, OMIM:618416 |
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DDG2P v3.11 | SLC25A1 |
Achchuthan Shanmugasundram gene: SLC25A1 was added gene: SLC25A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC25A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A1 were set to 29226520; 27306203; 23561848 Phenotypes for gene: SLC25A1 were set to SLC25A1-related Neurometabolic Disorder |
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DDG2P v3.11 | SLC1A4 |
Achchuthan Shanmugasundram gene: SLC1A4 was added gene: SLC1A4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC1A4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC1A4 were set to 27193218; 26041762; 31763347; 34174466 Phenotypes for gene: SLC1A4 were set to SLC1A4-related Spastic tetraplegia, thin corpus callosum, and progressive microcephaly |
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DDG2P v3.11 | SLC13A1 |
Achchuthan Shanmugasundram gene: SLC13A1 was added gene: SLC13A1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: SLC13A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC13A1 were set to 36175384 Phenotypes for gene: SLC13A1 were set to SLC13A1-associated hypersulfaturia and hyposulfatemia |
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DDG2P v3.11 | SIN3B |
Achchuthan Shanmugasundram gene: SIN3B was added gene: SIN3B was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: SIN3B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SIN3B were set to 33811806 Phenotypes for gene: SIN3B were set to SIN3B-related syndromic intellectual disability and autism spectrum disorder |
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DDG2P v3.11 | SIAH1 |
Achchuthan Shanmugasundram gene: SIAH1 was added gene: SIAH1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SIAH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SIAH1 were set to 32430360 Phenotypes for gene: SIAH1 were set to SIAH1-associated neurodevelopmental disorder Mode of pathogenicity for gene: SIAH1 was set to Other |
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DDG2P v3.11 | SHMT2 |
Achchuthan Shanmugasundram gene: SHMT2 was added gene: SHMT2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SHMT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SHMT2 were set to 33015733 Phenotypes for gene: SHMT2 were set to SHMT2-related neurodevelopmental syndrome Mode of pathogenicity for gene: SHMT2 was set to Other |
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DDG2P v3.11 | SETD5 | Achchuthan Shanmugasundram Publications for gene: SETD5 were updated from 24680889 to 31656537; 27375234; 28881385; 24680889; 28905509; 25138099; 28549204 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.11 | SETD2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to SETD2. Publications for gene: SETD2 were updated from 24852293; 27317772 to 34978780; 27317772; 32710489; 24852293 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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DDG2P v3.11 | SETD1B |
Achchuthan Shanmugasundram Source Expert Review Green was added to SETD1B. Publications for gene: SETD1B were updated from 29322246 to 32546566; 29322246 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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DDG2P v3.11 | SETD1A |
Achchuthan Shanmugasundram Source Expert Review Green was added to SETD1A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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DDG2P v3.11 | SET |
Achchuthan Shanmugasundram Source Expert Review Green was added to SET. Publications for gene: SET were updated from 28135719 to 35122673; 29688601; 28135719; 29907757 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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DDG2P v3.11 | SERAC1 |
Achchuthan Shanmugasundram gene: SERAC1 was added gene: SERAC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SERAC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SERAC1 were set to 32346411; 27186703; 28505671; 27331002; 28778788; 28916646; 34326751; 23707711; 29205472; 31251474; 33613893 Phenotypes for gene: SERAC1 were set to 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, OMIM:614739 |
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DDG2P v3.11 | SEMA6B |
Achchuthan Shanmugasundram gene: SEMA6B was added gene: SEMA6B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SEMA6B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SEMA6B were set to 34110594; 34017830; 33798445; 32169168; 34218423; 35604360; 34092044 Phenotypes for gene: SEMA6B were set to SEMA6B-related neurodevelopmental disorder Mode of pathogenicity for gene: SEMA6B was set to Other |
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DDG2P v3.11 | SEMA3A |
Achchuthan Shanmugasundram gene: SEMA3A was added gene: SEMA3A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SEMA3A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SEMA3A were set to 24124006; 33369061; 28075028 Phenotypes for gene: SEMA3A were set to SEMA3A-related skeletal dysplasia |
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DDG2P v3.11 | SELENON |
Achchuthan Shanmugasundram gene: SELENON was added gene: SELENON was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SELENON was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SELENON were set to 26841830; 15792869; 12192640; 28558865; 30642275; 23394784; 20937510; 32154989; 26780752; 29850975; 11528383; 15668457; 16498447; 28688748; 29172004; 31066047; 21670436; 28606403; 15961312; 25808192; 17951086 Phenotypes for gene: SELENON were set to SELENON-related myopathy |
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DDG2P v3.11 | SCUBE3 |
Achchuthan Shanmugasundram gene: SCUBE3 was added gene: SCUBE3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SCUBE3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SCUBE3 were set to 33308444 Phenotypes for gene: SCUBE3 were set to SCUBE3-related developmental disorder |
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DDG2P v3.11 | SCNM1 |
Achchuthan Shanmugasundram gene: SCNM1 was added gene: SCNM1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: SCNM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SCNM1 were set to 36084634 Phenotypes for gene: SCNM1 were set to SCNM1-associated orofaciodigital syndrome |
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DDG2P v3.11 | SCAF4 |
Achchuthan Shanmugasundram gene: SCAF4 was added gene: SCAF4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SCAF4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SCAF4 were set to 32730804 Phenotypes for gene: SCAF4 were set to SCAF4-related Neurodevelopmental Disorder |
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DDG2P v3.11 | SATB1 |
Achchuthan Shanmugasundram gene: SATB1 was added gene: SATB1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SATB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SATB1 were set to 33057194 Phenotypes for gene: SATB1 were set to SATB1-related developmental disorder (monoallelic) |
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DDG2P v3.11 | SARS2 |
Achchuthan Shanmugasundram gene: SARS2 was added gene: SARS2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SARS2 were set to 21255763; 33751860; 24034276 Phenotypes for gene: SARS2 were set to SARS2-related hyperuricemia, pulmonary hypertension, renal failure and alkalosis, OMIM:613845 Mode of pathogenicity for gene: SARS2 was set to Other |
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DDG2P v3.11 | SARS |
Achchuthan Shanmugasundram gene: SARS was added gene: SARS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SARS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SARS were set to 28236339; 34570399; 36041817 Phenotypes for gene: SARS were set to SARS1-related neurodevelopmental disorder with microcephaly, ataxia, and seizures, OMIM:617709; Autosomal dominant SARS1-related neurodevelopmental disorder Mode of pathogenicity for gene: SARS was set to Other |
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DDG2P v3.11 | RYR2 |
Achchuthan Shanmugasundram gene: RYR2 was added gene: RYR2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: RYR2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RYR2 were set to 30170228 Phenotypes for gene: RYR2 were set to RYR2-related Catecholaminergic polymorphic ventricular tachycardia and intellectual disability Mode of pathogenicity for gene: RYR2 was set to Other |
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DDG2P v3.11 | RSRC1 |
Achchuthan Shanmugasundram gene: RSRC1 was added gene: RSRC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RSRC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RSRC1 were set to 29522154; 32227164; 28640246 Phenotypes for gene: RSRC1 were set to INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 70 |
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DDG2P v3.11 | RRM1 |
Achchuthan Shanmugasundram gene: RRM1 was added gene: RRM1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: RRM1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: RRM1 were set to 35617047 Phenotypes for gene: RRM1 were set to RRM1-related mitochondrial DNA depletion/deletions syndrome Mode of pathogenicity for gene: RRM1 was set to Other |
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DDG2P v3.11 | RPS26 |
Achchuthan Shanmugasundram gene: RPS26 was added gene: RPS26 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RPS26 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RPS26 were set to 24942156; 24675553; 25946618; 31277601; 20116044 Phenotypes for gene: RPS26 were set to DIAMOND-BLACKFAN ANEMIA 10, OMIM:613309 |
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DDG2P v3.11 | RPL26 |
Achchuthan Shanmugasundram gene: RPL26 was added gene: RPL26 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RPL26 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RPL26 were set to 22431104 Phenotypes for gene: RPL26 were set to DIAMOND-BLACKFAN ANEMIA 11, OMIM:614900 |
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DDG2P v3.11 | RPL13 |
Achchuthan Shanmugasundram gene: RPL13 was added gene: RPL13 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: RPL13 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RPL13 were set to 31630789 Phenotypes for gene: RPL13 were set to Spondyloepimetaphyseal Dysplasia with Severe Short Stature Mode of pathogenicity for gene: RPL13 was set to Other |
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DDG2P v3.11 | RPL10 |
Achchuthan Shanmugasundram gene: RPL10 was added gene: RPL10 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RPL10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: RPL10 were set to 25846674; 29066376; 35876338; 25316788; 26290468 Phenotypes for gene: RPL10 were set to INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, 35, OMIM:300998 Mode of pathogenicity for gene: RPL10 was set to Other |
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DDG2P v3.11 | RORB |
Achchuthan Shanmugasundram gene: RORB was added gene: RORB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RORB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RORB were set to 27352968; 32162308; 33387058 Phenotypes for gene: RORB were set to RORB-epilepsy and neurodevelopmental disorder, OMIM:618357; epilepsy, idiopathic generalized, susceptibility to, 15, MONDO:0032699 |
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DDG2P v3.11 | RNU12 |
Achchuthan Shanmugasundram gene: RNU12 was added gene: RNU12 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: RNU12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNU12 were set to 27863452; 34085356 Phenotypes for gene: RNU12 were set to RNU12-related CDAGS syndrome Mode of pathogenicity for gene: RNU12 was set to Other |
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DDG2P v3.11 | RNPC3 |
Achchuthan Shanmugasundram gene: RNPC3 was added gene: RNPC3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RNPC3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNPC3 were set to 35792517; 29866761; 32462814; 24480542; 33650182 Phenotypes for gene: RNPC3 were set to RNPC3-associated growth hormone deficiency and short stature, OMIM:618160 |
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DDG2P v3.11 | RNF125 |
Achchuthan Shanmugasundram gene: RNF125 was added gene: RNF125 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: RNF125 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RNF125 were set to 34196401; 25196541 Phenotypes for gene: RNF125 were set to RNF125-related intellectual disability and macrocephaly, OMIM:616260 Mode of pathogenicity for gene: RNF125 was set to Other |
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DDG2P v3.11 | RIMS2 |
Achchuthan Shanmugasundram gene: RIMS2 was added gene: RIMS2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RIMS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RIMS2 were set to 32470375 Phenotypes for gene: RIMS2 were set to RIMS2 Syndromic Congenital Cone-Rod Synaptic Disease |
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DDG2P v3.11 | REST |
Achchuthan Shanmugasundram gene: REST was added gene: REST was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: REST was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: REST were set to 36509837 Phenotypes for gene: REST were set to REST-related gingival fibromatosis and sensorineural hearing loss Mode of pathogenicity for gene: REST was set to Other |
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DDG2P v3.11 | RBFOX1 |
Achchuthan Shanmugasundram gene: RBFOX1 was added gene: RBFOX1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: RBFOX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RBFOX1 were set to 26185613; 26749308 Phenotypes for gene: RBFOX1 were set to RBFOX1-related neurodevelopmental disorder |
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DDG2P v3.11 | RBBP8 |
Achchuthan Shanmugasundram gene: RBBP8 was added gene: RBBP8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RBBP8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RBBP8 were set to 26333564; 34270086; 21998596 Phenotypes for gene: RBBP8 were set to RBBP8-related microcephaly and intellectual disability, OMIM:251255 |
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DDG2P v3.11 | RARS |
Achchuthan Shanmugasundram gene: RARS was added gene: RARS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RARS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RARS were set to 28905880; 31814314 Phenotypes for gene: RARS were set to RARS1 related hypomyelinating leukodystrophy |
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DDG2P v3.11 | RAP1B |
Achchuthan Shanmugasundram gene: RAP1B was added gene: RAP1B was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: RAP1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RAP1B were set to 32627184; 26280580 Phenotypes for gene: RAP1B were set to RAP1B-related developmental disorder Mode of pathogenicity for gene: RAP1B was set to Other |
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DDG2P v3.11 | RALGAPA1 |
Achchuthan Shanmugasundram gene: RALGAPA1 was added gene: RALGAPA1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RALGAPA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RALGAPA1 were set to 32004447 Phenotypes for gene: RALGAPA1 were set to RALGAPA1-related neurodevelopmental disorder |
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DDG2P v3.11 | RALA |
Achchuthan Shanmugasundram gene: RALA was added gene: RALA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RALA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RALA were set to 30500825 Phenotypes for gene: RALA were set to RALA-related Neurodevelopmental Syndrome Mode of pathogenicity for gene: RALA was set to Other |
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DDG2P v3.11 | RAB14 |
Achchuthan Shanmugasundram gene: RAB14 was added gene: RAB14 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RAB14 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RAB14 were set to 33057194 Phenotypes for gene: RAB14 were set to RAB14-related developmental disorder (monoallelic) Mode of pathogenicity for gene: RAB14 was set to Other |
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DDG2P v3.11 | PUS3 |
Achchuthan Shanmugasundram gene: PUS3 was added gene: PUS3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PUS3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PUS3 were set to 30697592; 32056211; 34415064; 31444731; 30308082; 27055666 Phenotypes for gene: PUS3 were set to PUS3-associated neurodevelopmental disorder with microcephaly and gray sclerae |
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DDG2P v3.11 | PUS1 |
Achchuthan Shanmugasundram gene: PUS1 was added gene: PUS1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PUS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PUS1 were set to 32287105; 30588737; 17056637; 26556812; 25227147 Phenotypes for gene: PUS1 were set to MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1, OMIM:600462 |
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DDG2P v3.11 | PTRH2 |
Achchuthan Shanmugasundram gene: PTRH2 was added gene: PTRH2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PTRH2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PTRH2 were set to 31057140; 27129381; 25574476; 25558065; 28328138 Phenotypes for gene: PTRH2 were set to NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET, OMIM:616263 |
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DDG2P v3.11 | PSMC5 |
Achchuthan Shanmugasundram gene: PSMC5 was added gene: PSMC5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PSMC5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PSMC5 were set to 33057194 Phenotypes for gene: PSMC5 were set to PSMC5-related developmental disorder (monoallelic) Mode of pathogenicity for gene: PSMC5 was set to Other |
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DDG2P v3.11 | PSMC1 |
Achchuthan Shanmugasundram gene: PSMC1 was added gene: PSMC1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: PSMC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PSMC1 were set to 35861243 Phenotypes for gene: PSMC1 were set to PSMC1-related neurodevelopmental disorder Mode of pathogenicity for gene: PSMC1 was set to Other |
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DDG2P v3.11 | PRPF8 |
Achchuthan Shanmugasundram gene: PRPF8 was added gene: PRPF8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PRPF8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PRPF8 were set to 33057194; 35543142; 29847639 Phenotypes for gene: PRPF8 were set to PRPF8-related developmental disorder (monoallelic) |
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DDG2P v3.11 | PROSER1 |
Achchuthan Shanmugasundram gene: PROSER1 was added gene: PROSER1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: PROSER1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PROSER1 were set to 35229282 Phenotypes for gene: PROSER1 were set to PROSER1-related developmental disorder |
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DDG2P v3.11 | PRKG2 |
Achchuthan Shanmugasundram gene: PRKG2 was added gene: PRKG2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PRKG2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PRKG2 were set to 34782440; 36504352; 33106379 Phenotypes for gene: PRKG2 were set to PRKG2-related acromesomelic dysplasia and spondylometaphyseal dysplasia, OMIM:619636 |
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DDG2P v3.11 | PRKAR1B |
Achchuthan Shanmugasundram gene: PRKAR1B was added gene: PRKAR1B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PRKAR1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PRKAR1B were set to 33057194; 33833410 Phenotypes for gene: PRKAR1B were set to PRKAR1B-related developmental disorder Mode of pathogenicity for gene: PRKAR1B was set to Other |
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DDG2P v3.11 | PRKACB |
Achchuthan Shanmugasundram gene: PRKACB was added gene: PRKACB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PRKACB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PRKACB were set to 33058759 Phenotypes for gene: PRKACB were set to PRKACB-related Multiple Congenital Malformation Syndrome Mode of pathogenicity for gene: PRKACB was set to Other |
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DDG2P v3.11 | PRKACA |
Achchuthan Shanmugasundram gene: PRKACA was added gene: PRKACA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PRKACA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PRKACA were set to 33058759 Phenotypes for gene: PRKACA were set to PRKACA-related Multiple Congenital Malformation Syndrome Mode of pathogenicity for gene: PRKACA was set to Other |
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DDG2P v3.11 | PRIM1 |
Achchuthan Shanmugasundram gene: PRIM1 was added gene: PRIM1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PRIM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PRIM1 were set to 33060134 Phenotypes for gene: PRIM1 were set to PRIM1-related Primordial Dwarfism |
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DDG2P v3.11 | PRDX3 |
Achchuthan Shanmugasundram gene: PRDX3 was added gene: PRDX3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PRDX3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PRDX3 were set to 35766882 Phenotypes for gene: PRDX3 were set to PRDX3-associated cerebellar ataxia |
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DDG2P v3.11 | PRDM15 |
Achchuthan Shanmugasundram gene: PRDM15 was added gene: PRDM15 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: PRDM15 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PRDM15 were set to 33593823 Phenotypes for gene: PRDM15 were set to PRDM15-related renal and neurodevelopmental disorder Mode of pathogenicity for gene: PRDM15 was set to Other |
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DDG2P v3.11 | PRDM13 |
Achchuthan Shanmugasundram gene: PRDM13 was added gene: PRDM13 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PRDM13 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PRDM13 were set to 35390279 Phenotypes for gene: PRDM13 were set to PRDM13-related olivopentocerebellar hypoplasia syndrome |
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DDG2P v3.11 | PPP1R21 |
Achchuthan Shanmugasundram gene: PPP1R21 was added gene: PPP1R21 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PPP1R21 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PPP1R21 were set to 30520571; 28940097; 29808498; 32985083 Phenotypes for gene: PPP1R21 were set to PPP1R21-related neurodevelopmental disorder |
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DDG2P v3.11 | PPP1R13L |
Achchuthan Shanmugasundram gene: PPP1R13L was added gene: PPP1R13L was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PPP1R13L was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PPP1R13L were set to 32666529; 28069640 Phenotypes for gene: PPP1R13L were set to PPP1R13L-related dilated cardiomyopathy |
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DDG2P v3.11 | PPP1R12A |
Achchuthan Shanmugasundram gene: PPP1R12A was added gene: PPP1R12A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PPP1R12A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PPP1R12A were set to 31883643 Phenotypes for gene: PPP1R12A were set to PPP1R12A-related Holoprosencephaly Spectrum and Urogenital Malformations |
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DDG2P v3.11 | PPIL1 |
Achchuthan Shanmugasundram gene: PPIL1 was added gene: PPIL1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PPIL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PPIL1 were set to 33220177 Phenotypes for gene: PPIL1 were set to PPIL1-related Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly |
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DDG2P v3.11 | PPFIBP1 |
Achchuthan Shanmugasundram gene: PPFIBP1 was added gene: PPFIBP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PPFIBP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PPFIBP1 were set to 30214071; 35830857 Phenotypes for gene: PPFIBP1 were set to PPFIBP1-related neurodevelopmental disorder |
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DDG2P v3.11 | POU4F1 |
Achchuthan Shanmugasundram gene: POU4F1 was added gene: POU4F1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: POU4F1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: POU4F1 were set to 33783914 Phenotypes for gene: POU4F1 were set to POU4F1-related ataxia, intention tremor, and hypotonia syndrome, OMIM:619352 |
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DDG2P v3.11 | POMK |
Achchuthan Shanmugasundram gene: POMK was added gene: POMK was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: POMK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POMK were set to 32907597; 31833209; 24556084; 24925318 Phenotypes for gene: POMK were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 |
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DDG2P v3.11 | POLR3GL |
Achchuthan Shanmugasundram gene: POLR3GL was added gene: POLR3GL was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: POLR3GL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POLR3GL were set to 31089205 Phenotypes for gene: POLR3GL were set to Endosteal Hyperostosis and Oligodontia |
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DDG2P v3.11 | POLE |
Achchuthan Shanmugasundram gene: POLE was added gene: POLE was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: POLE was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POLE were set to 30503519; 25948378; 35860951; 23230001 Phenotypes for gene: POLE were set to IMAGe Syndrome with variable immunodeficiency |
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DDG2P v3.11 | PNPO |
Achchuthan Shanmugasundram gene: PNPO was added gene: PNPO was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PNPO was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PNPO were set to 24266778; 26108646; 24645144; 25762494; 33981986; 24658933; 28818555; 27014579; 26303608; 26535729 Phenotypes for gene: PNPO were set to PNPO-related neonatal encephalopathy responsive to pyridoxal-5'-phosphate, OMIM:610090 |
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DDG2P v3.11 | PNPLA6 |
Achchuthan Shanmugasundram gene: PNPLA6 was added gene: PNPLA6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PNPLA6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PNPLA6 were set to 25574898; 24355708; 25480986 Phenotypes for gene: PNPLA6 were set to PNPLA6-related Disorder |
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DDG2P v3.11 | PLXNA1 |
Achchuthan Shanmugasundram gene: PLXNA1 was added gene: PLXNA1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: PLXNA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: PLXNA1 were set to 34054129 Phenotypes for gene: PLXNA1 were set to PLXNA1-associated neurodevelopmental disorder (biallelic); PLXNA1-associated neurodevelopmental disorder with seizures (monoallelic) |
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DDG2P v3.11 | PLCH1 |
Achchuthan Shanmugasundram gene: PLCH1 was added gene: PLCH1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: PLCH1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLCH1 were set to 33820834 Phenotypes for gene: PLCH1 were set to HPE-related disorder Mode of pathogenicity for gene: PLCH1 was set to Other |
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DDG2P v3.11 | PIGK |
Achchuthan Shanmugasundram gene: PIGK was added gene: PIGK was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PIGK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIGK were set to 32220290 Phenotypes for gene: PIGK were set to PIGK-associated Neurodevelopmental Syndrome |
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DDG2P v3.11 | PIGH |
Achchuthan Shanmugasundram gene: PIGH was added gene: PIGH was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PIGH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIGH were set to 29603516; 29573052 Phenotypes for gene: PIGH were set to GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17, OMIM:618010 |
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DDG2P v3.11 | PIDD1 |
Achchuthan Shanmugasundram gene: PIDD1 was added gene: PIDD1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PIDD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIDD1 were set to 33414379 Phenotypes for gene: PIDD1 were set to PIDD1-related neurodevelopmental disorder |
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DDG2P v3.11 | PIBF1 |
Achchuthan Shanmugasundram gene: PIBF1 was added gene: PIBF1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PIBF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIBF1 were set to 29695797; 26167768 Phenotypes for gene: PIBF1 were set to JOUBERT SYNDROME 33, OMIM:617767 |
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DDG2P v3.11 | PI4KA |
Achchuthan Shanmugasundram gene: PI4KA was added gene: PI4KA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PI4KA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PI4KA were set to 34415310; 34415322; 25855803 Phenotypes for gene: PI4KA were set to PI4KA-associated polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531 |
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DDG2P v3.11 | PHF6 |
Achchuthan Shanmugasundram Mode of inheritance for gene PHF6 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: PHF6 were updated from 15994862; 12415272; 15466013 to 35662002; 15466013; 15994862; 12415272 |
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DDG2P v3.11 | PGM2L1 |
Achchuthan Shanmugasundram gene: PGM2L1 was added gene: PGM2L1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PGM2L1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PGM2L1 were set to 33979636 Phenotypes for gene: PGM2L1 were set to PGM2L1-related neurodevelopmental disorder |
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DDG2P v3.11 | PDIA6 |
Achchuthan Shanmugasundram gene: PDIA6 was added gene: PDIA6 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: PDIA6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PDIA6 were set to 33495992; 35856135 Phenotypes for gene: PDIA6 were set to PDIA6-associated syndromic neonatal diabetes and asphyxiating thoracic dystrophy |
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DDG2P v3.11 | PCYT2 |
Achchuthan Shanmugasundram gene: PCYT2 was added gene: PCYT2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PCYT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PCYT2 were set to 32889549; 31637422 Phenotypes for gene: PCYT2 were set to COMPLEX HEREDITARY SPASTIC PARAPLEGIA, OMIM:615033 |
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DDG2P v3.11 | PCDHGC4 |
Achchuthan Shanmugasundram gene: PCDHGC4 was added gene: PCDHGC4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PCDHGC4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PCDHGC4 were set to 34244665 Phenotypes for gene: PCDHGC4 were set to PCDHGC4-related neurodevelopmental disorder with microcephaly and seizures |
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DDG2P v3.11 | PCDH12 |
Achchuthan Shanmugasundram gene: PCDH12 was added gene: PCDH12 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PCDH12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PCDH12 were set to 28804758; 27164683; 30178464; 29556033; 30459466 Phenotypes for gene: PCDH12 were set to DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 1, OMIM:251280 |
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DDG2P v3.11 | PCBP2 |
Achchuthan Shanmugasundram gene: PCBP2 was added gene: PCBP2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: PCBP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PCBP2 were set to PCBP2-related developmental disorder (monoallelic) |
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DDG2P v3.11 | PAX1 |
Achchuthan Shanmugasundram gene: PAX1 was added gene: PAX1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PAX1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PAX1 were set to 23851939; 28657137; 29681087 Phenotypes for gene: PAX1 were set to OTOFACIOCERVICAL SYNDROME, OMIM:166780 |
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DDG2P v3.11 | PAN2 |
Achchuthan Shanmugasundram gene: PAN2 was added gene: PAN2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PAN2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PAN2 were set to 35304602 Phenotypes for gene: PAN2 were set to PAN2-related neurodevelopmental disorder with multiple congenital anomalies |
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DDG2P v3.11 | P4HTM |
Achchuthan Shanmugasundram gene: P4HTM was added gene: P4HTM was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: P4HTM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: P4HTM were set to 35908151; 34285383; 30940925; 32965080 Phenotypes for gene: P4HTM were set to Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities, OMIM:618493 |
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DDG2P v3.11 | OXR1 |
Achchuthan Shanmugasundram gene: OXR1 was added gene: OXR1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: OXR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OXR1 were set to 31785787 Phenotypes for gene: OXR1 were set to Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal Dysfunction |
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DDG2P v3.11 | OTUD5 |
Achchuthan Shanmugasundram gene: OTUD5 was added gene: OTUD5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: OTUD5 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: OTUD5 were set to 33748114; 33131077; 33523931 Phenotypes for gene: OTUD5 were set to OTUD5-associated neurodevelopmental disorder Mode of pathogenicity for gene: OTUD5 was set to Other |
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DDG2P v3.11 | ONECUT1 |
Achchuthan Shanmugasundram gene: ONECUT1 was added gene: ONECUT1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ONECUT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ONECUT1 were set to 34663987 Phenotypes for gene: ONECUT1 were set to ONECUT1-associated neonatal diabetes |
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DDG2P v3.11 | OGT |
Achchuthan Shanmugasundram gene: OGT was added gene: OGT was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: OGT was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: OGT were set to OGT-related developmental disorder (hemizygous); OGT-related developmental disorder (X-linked dominant) |
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DDG2P v3.11 | OGDHL |
Achchuthan Shanmugasundram gene: OGDHL was added gene: OGDHL was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: OGDHL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OGDHL were set to 34800363 Phenotypes for gene: OGDHL were set to OGDHL-related neurodevelopmental disorder with seizures, hearing loss and gait ataxia |
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DDG2P v3.11 | OGDH |
Achchuthan Shanmugasundram gene: OGDH was added gene: OGDH was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: OGDH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OGDH were set to 36520152; 32383294 Phenotypes for gene: OGDH were set to OGDH-related neurodevelopmental disorder Mode of pathogenicity for gene: OGDH was set to Other |
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DDG2P v3.11 | ODC1 |
Achchuthan Shanmugasundram gene: ODC1 was added gene: ODC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ODC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ODC1 were set to ODC1-related developmental disorder (monoallelic) |
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DDG2P v3.11 | OCLN |
Achchuthan Shanmugasundram gene: OCLN was added gene: OCLN was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: OCLN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OCLN were set to 32240828; 26689621; 20727516; 28179633 Phenotypes for gene: OCLN were set to OCLN-associated Band-like Calcification with Simplified Gyration and Polymicrogyria |
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DDG2P v3.11 | NUP54 |
Achchuthan Shanmugasundram gene: NUP54 was added gene: NUP54 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NUP54 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NUP54 were set to 36333996 Phenotypes for gene: NUP54 were set to NUP54-related early-onset dystonia with striatal lesions Mode of pathogenicity for gene: NUP54 was set to Other |
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DDG2P v3.11 | NUDT2 |
Achchuthan Shanmugasundram gene: NUDT2 was added gene: NUDT2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NUDT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NUDT2 were set to 30059600; 27431290; 33058507 Phenotypes for gene: NUDT2 were set to NUDT2-related Developmental Disorder |
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DDG2P v3.11 | NTNG2 |
Achchuthan Shanmugasundram gene: NTNG2 was added gene: NTNG2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NTNG2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NTNG2 were set to 31372774; 31668703 Phenotypes for gene: NTNG2 were set to Developmental delay, hypotonia, and autistic features |
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DDG2P v3.11 | NSRP1 |
Achchuthan Shanmugasundram gene: NSRP1 was added gene: NSRP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NSRP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NSRP1 were set to 34385670 Phenotypes for gene: NSRP1 were set to NSRP1-associated developmental delay, epilepsy and microcephaly |
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DDG2P v3.11 | NSD2 |
Achchuthan Shanmugasundram gene: NSD2 was added gene: NSD2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NSD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: NSD2 were set to NSD2-related developmental disorder (monoallelic) |
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DDG2P v3.11 | NRROS |
Achchuthan Shanmugasundram gene: NRROS was added gene: NRROS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NRROS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NRROS were set to 32197075 Phenotypes for gene: NRROS were set to NRROS-related Infantile-Onset Neurodegeneration with Intracranial Calcification |
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DDG2P v3.11 | NRCAM |
Achchuthan Shanmugasundram gene: NRCAM was added gene: NRCAM was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NRCAM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NRCAM were set to 35108495 Phenotypes for gene: NRCAM were set to NRCAM neurodevelopmental disorder with dysmorphic features, hypotonia and spasticity |
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DDG2P v3.11 | NR4A2 |
Achchuthan Shanmugasundram gene: NR4A2 was added gene: NR4A2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NR4A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: NR4A2 were set to NR4A2-related developmental disorder (monoallelic) |
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DDG2P v3.11 | NKAP |
Achchuthan Shanmugasundram gene: NKAP was added gene: NKAP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NKAP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: NKAP were set to 31587868 Phenotypes for gene: NKAP were set to Marfanoid Habitus and Cognitive Impairment Mode of pathogenicity for gene: NKAP was set to Other |
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DDG2P v3.11 | NHLRC2 |
Achchuthan Shanmugasundram gene: NHLRC2 was added gene: NHLRC2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NHLRC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NHLRC2 were set to 34165204; 32435055; 29423877 Phenotypes for gene: NHLRC2 were set to NHLRC2-related fibrosis, neurodegeneration, and cerebral angiomatosis, OMIM:618278 |
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DDG2P v3.11 | NFE2L2 |
Achchuthan Shanmugasundram gene: NFE2L2 was added gene: NFE2L2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NFE2L2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NFE2L2 were set to 29018201 Phenotypes for gene: NFE2L2 were set to NFE2L2-related leukoencephalopathy, immune deficiency and hypohomocysteinaemia, OMIM:617744 Mode of pathogenicity for gene: NFE2L2 was set to Other |
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DDG2P v3.11 | NDUFV2 |
Achchuthan Shanmugasundram gene: NDUFV2 was added gene: NDUFV2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NDUFV2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFV2 were set to 26008862; 33811136 Phenotypes for gene: NDUFV2 were set to Mitochondrial complex I deficiency, nuclear type 7, OMIM:618229 Mode of pathogenicity for gene: NDUFV2 was set to Other |
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DDG2P v3.11 | NDUFB7 |
Achchuthan Shanmugasundram gene: NDUFB7 was added gene: NDUFB7 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: NDUFB7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFB7 were set to 33502047 Phenotypes for gene: NDUFB7 were set to NDUFB7-associated lactic acidosis and hypertrophic cardiomyopathy |
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DDG2P v3.11 | NDUFB3 |
Achchuthan Shanmugasundram gene: NDUFB3 was added gene: NDUFB3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NDUFB3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFB3 were set to 27091925; 22499348; 22277967 Phenotypes for gene: NDUFB3 were set to NDUFB3-associated mitochondrial complex I deficiency, OMIM:618246 |
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DDG2P v3.11 | NDUFAF8 |
Achchuthan Shanmugasundram gene: NDUFAF8 was added gene: NDUFAF8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NDUFAF8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFAF8 were set to 31866046 Phenotypes for gene: NDUFAF8 were set to NDUFAF8-related Leigh Syndrome |
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DDG2P v3.11 | NDUFA8 |
Achchuthan Shanmugasundram gene: NDUFA8 was added gene: NDUFA8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NDUFA8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFA8 were set to 32385911 Phenotypes for gene: NDUFA8 were set to NDUFA8-related developmental disorder |
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DDG2P v3.11 | NDUFA12 |
Achchuthan Shanmugasundram gene: NDUFA12 was added gene: NDUFA12 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NDUFA12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFA12 were set to 33715266; 21617257 Phenotypes for gene: NDUFA12 were set to NDUFA12-associated mtochondrial complex I deficiency, OMIM:618244 |
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DDG2P v3.11 | NDNF |
Achchuthan Shanmugasundram gene: NDNF was added gene: NDNF was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NDNF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NDNF were set to 31883645 Phenotypes for gene: NDNF were set to NDNF-related Congenital Hypogonadotrophic Hypogonadism |
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DDG2P v3.11 | NCOR1 |
Achchuthan Shanmugasundram gene: NCOR1 was added gene: NCOR1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: NCOR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NCOR1 were set to 30289594; 27824329 Phenotypes for gene: NCOR1 were set to NCOR1-related developmental disorder |
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DDG2P v3.11 | NCKAP1 |
Achchuthan Shanmugasundram gene: NCKAP1 was added gene: NCKAP1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: NCKAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NCKAP1 were set to 33157009 Phenotypes for gene: NCKAP1 were set to NCKAP1-related Neurodevelopmental Disorder |
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DDG2P v3.11 | NCDN |
Achchuthan Shanmugasundram gene: NCDN was added gene: NCDN was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NCDN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NCDN were set to 33711248 Phenotypes for gene: NCDN were set to NCDN-associated neurodevelopmental disorder with seizures (monoallelic); NCDN-associated neurodevelopmental disorder with seizures (biallelic) Mode of pathogenicity for gene: NCDN was set to Other |
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DDG2P v3.11 | NARS2 |
Achchuthan Shanmugasundram gene: NARS2 was added gene: NARS2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NARS2 were set to 32020600; 25807530; 28716262; 28077841; 25385316; 30327238; 35703918; 34415467; 25629079 Phenotypes for gene: NARS2 were set to NARS2-associated oxidative phosphorylation deficiency |
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DDG2P v3.11 | NARS |
Achchuthan Shanmugasundram gene: NARS was added gene: NARS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NARS was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: NARS were set to 32738225; 32788587 Phenotypes for gene: NARS were set to NARS1 Neurodevelopmental Disorder (monoallelic); NARS1 Neurodevelopmental Disorder (biallelic) |
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DDG2P v3.11 | NAPB |
Achchuthan Shanmugasundram gene: NAPB was added gene: NAPB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NAPB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NAPB were set to 28097321; 26235277; 33189936 Phenotypes for gene: NAPB were set to NAPB-related Neurodevelopmental Disorder |
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DDG2P v3.11 | NAE1 |
Achchuthan Shanmugasundram gene: NAE1 was added gene: NAE1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NAE1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NAE1 were set to 36608681 Phenotypes for gene: NAE1 were set to NAE1-associated neurodevelopmental disorder with intellectual disability, ischiopubic hypoplasia, stress-mediated lymphopenia and neurodegeneration Mode of pathogenicity for gene: NAE1 was set to Other |
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DDG2P v3.11 | NADSYN1 |
Achchuthan Shanmugasundram gene: NADSYN1 was added gene: NADSYN1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NADSYN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NADSYN1 were set to 31883644; 35491967 Phenotypes for gene: NADSYN1 were set to NADSYN1-related Congenital NAD Deficiency Disorder |
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DDG2P v3.11 | NAA20 |
Achchuthan Shanmugasundram gene: NAA20 was added gene: NAA20 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: NAA20 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NAA20 were set to 34230638 Phenotypes for gene: NAA20 were set to NAA20-associated developmental delay and microcephaly Mode of pathogenicity for gene: NAA20 was set to Other |
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DDG2P v3.11 | MYSM1 |
Achchuthan Shanmugasundram gene: MYSM1 was added gene: MYSM1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: MYSM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYSM1 were set to 26220525; 32640305; 28115216; 33618624; 24288411 Phenotypes for gene: MYSM1 were set to MYSM1-related congenital bone marrow failure, OMIM:618116 |
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DDG2P v3.11 | MYO18B |
Achchuthan Shanmugasundram gene: MYO18B was added gene: MYO18B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MYO18B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYO18B were set to 25748484; 31195167; 27858739; 32184166; 32637634 Phenotypes for gene: MYO18B were set to KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH NEMALINE MYOPATHY AND FACIAL DYSMORPHISM, OMIM:616549 |
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DDG2P v3.11 | MYLPF |
Achchuthan Shanmugasundram gene: MYLPF was added gene: MYLPF was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MYLPF was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYLPF were set to 32707087 Phenotypes for gene: MYLPF were set to MYLPF arthrogryposis (monoallelic); MYLPF arthrogryposis (biallelic) Mode of pathogenicity for gene: MYLPF was set to Other |
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DDG2P v3.11 | MYL1 |
Achchuthan Shanmugasundram gene: MYL1 was added gene: MYL1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: MYL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYL1 were set to 30215711 Phenotypes for gene: MYL1 were set to MYOPATHY, CONGENITAL, WITH FAST-TWITCH (TYPE II) FIBER ATROPHY, OMIM:618414 |
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DDG2P v3.11 | MYCBP2 |
Achchuthan Shanmugasundram gene: MYCBP2 was added gene: MYCBP2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: MYCBP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MYCBP2 were set to 36200388 Phenotypes for gene: MYCBP2 were set to MYCBP2-related developmental delay with corpus callosum defects |
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DDG2P v3.11 | MYBPC1 |
Achchuthan Shanmugasundram gene: MYBPC1 was added gene: MYBPC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MYBPC1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: MYBPC1 were set to 31264822; 31966463; 22610851; 26661508; 25679999; 20045868 Phenotypes for gene: MYBPC1 were set to LETHAL CONGENITAL CONTRACTURE SYNDROME 4, OMIM:614915; MYBPC1-related arthrogryposis and myopathy |
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DDG2P v3.11 | MTSS1L |
Achchuthan Shanmugasundram gene: MTSS1L was added gene: MTSS1L was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MTSS1L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MTSS1L were set to 36067766 Phenotypes for gene: MTSS1L were set to MTSS2-associated syndromic intellectual disability Mode of pathogenicity for gene: MTSS1L was set to Other |
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DDG2P v3.11 | MT-TL1 |
Achchuthan Shanmugasundram gene: MT-TL1 was added gene: MT-TL1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene gene: MT-TL1 was set to MITOCHONDRIAL Publications for gene: MT-TL1 were set to 34075211 Phenotypes for gene: MT-TL1 were set to MT-TL1-associated mitochondrial disorder Mode of pathogenicity for gene: MT-TL1 was set to Other |
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DDG2P v3.11 | MSL2 |
Achchuthan Shanmugasundram gene: MSL2 was added gene: MSL2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MSL2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MSL2 were set to 33057194; 31332282 Phenotypes for gene: MSL2 were set to MSL2-related developmental disorder (monoallelic) |
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DDG2P v3.11 | MRAS |
Achchuthan Shanmugasundram gene: MRAS was added gene: MRAS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MRAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MRAS were set to 28289718; 31173466; 31108500 Phenotypes for gene: MRAS were set to NOONAN SYNDROME 11, OMIM:618499 Mode of pathogenicity for gene: MRAS was set to Other |
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DDG2P v3.11 | MPZ |
Achchuthan Shanmugasundram gene: MPZ was added gene: MPZ was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MPZ was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MPZ were set to 15184631; 8816708; 12953275; 26310628 Phenotypes for gene: MPZ were set to NEUROPATHY, CONGENITAL HYPOMYELINATING, 2, OMIM:618184 Mode of pathogenicity for gene: MPZ was set to Other |
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DDG2P v3.11 | MPC2 |
Achchuthan Shanmugasundram gene: MPC2 was added gene: MPC2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: MPC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MPC2 were set to 36417180 Phenotypes for gene: MPC2 were set to MPC2-related metabolic disorder Mode of pathogenicity for gene: MPC2 was set to Other |
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DDG2P v3.11 | MMP15 |
Achchuthan Shanmugasundram gene: MMP15 was added gene: MMP15 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: MMP15 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MMP15 were set to 34988996; 33875846 Phenotypes for gene: MMP15 were set to MMP15-related developmental disorder |
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DDG2P v3.11 | MMGT1 |
Achchuthan Shanmugasundram gene: MMGT1 was added gene: MMGT1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MMGT1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: MMGT1 were set to 33057194 Phenotypes for gene: MMGT1 were set to MMGT1-related developmental disorder Mode of pathogenicity for gene: MMGT1 was set to Other |
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DDG2P v3.11 | MIB1 |
Achchuthan Shanmugasundram gene: MIB1 was added gene: MIB1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: MIB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MIB1 were set to 33057194; 30322850 Phenotypes for gene: MIB1 were set to MIB1-related developmental disorder (monoallelic) |
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DDG2P v3.11 | MFN2 |
Achchuthan Shanmugasundram gene: MFN2 was added gene: MFN2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MFN2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MFN2 were set to 33057194 Phenotypes for gene: MFN2 were set to MFN2-related developmental disorder Mode of pathogenicity for gene: MFN2 was set to Other |
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DDG2P v3.11 | MFF |
Achchuthan Shanmugasundram gene: MFF was added gene: MFF was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MFF was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MFF were set to 26783368; 30581454; 22499341; 32181496 Phenotypes for gene: MFF were set to ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2, OMIM:617086 |
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DDG2P v3.11 | METTL23 |
Achchuthan Shanmugasundram gene: METTL23 was added gene: METTL23 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: METTL23 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: METTL23 were set to 32067349; 24626631; 24501276 Phenotypes for gene: METTL23 were set to METTL23-related Intellectual Disability |
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DDG2P v3.11 | MEIS2 |
Achchuthan Shanmugasundram gene: MEIS2 was added gene: MEIS2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MEIS2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MEIS2 were set to MEIS2-related developmental disorder (monoallelic) |
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DDG2P v3.11 | MED27 |
Achchuthan Shanmugasundram gene: MED27 was added gene: MED27 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MED27 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MED27 were set to 33443317 Phenotypes for gene: MED27 were set to MED27-related neurodevelopmental disorder |
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DDG2P v3.11 | MED25 |
Achchuthan Shanmugasundram gene: MED25 was added gene: MED25 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MED25 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MED25 were set to 31602195; 25792360; 25527630; 32324310 Phenotypes for gene: MED25 were set to Basel-Vanagaite-Smirin-Yosef Syndrome, OMIM:616449 Mode of pathogenicity for gene: MED25 was set to Other |
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DDG2P v3.11 | MED12 |
Achchuthan Shanmugasundram Mode of inheritance for gene MED12 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: MED12 were updated from 6711603 to 33244166; 17369503; 31536828; 6711603; 24123922; 17334363; 24715367; 28544239; 27980443; 27312080; 33244165; 30006928; 27286923; 27500536; 35385210 |
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DDG2P v3.11 | MED11 |
Achchuthan Shanmugasundram gene: MED11 was added gene: MED11 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MED11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MED11 were set to 36001086 Phenotypes for gene: MED11 were set to MED11-associated neurodevelopmental disorder Mode of pathogenicity for gene: MED11 was set to Other |
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DDG2P v3.11 | MAU2 |
Achchuthan Shanmugasundram gene: MAU2 was added gene: MAU2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: MAU2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MAU2 were set to 32433956 Phenotypes for gene: MAU2 were set to MAU2 neurodevelopmental disorder |
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DDG2P v3.11 | MAST1 |
Achchuthan Shanmugasundram gene: MAST1 was added gene: MAST1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MAST1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MAST1 were set to MAST1-related developmental disorder (monoallelic) Mode of pathogenicity for gene: MAST1 was set to Other |
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DDG2P v3.11 | MAPKAPK5 |
Achchuthan Shanmugasundram gene: MAPKAPK5 was added gene: MAPKAPK5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MAPKAPK5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MAPKAPK5 were set to 35575217; 33442026 Phenotypes for gene: MAPKAPK5 were set to MAPKAPK5-associated syndrome with synpolydactyly |
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DDG2P v3.11 | MAPK1 |
Achchuthan Shanmugasundram gene: MAPK1 was added gene: MAPK1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MAPK1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MAPK1 were set to 32721402 Phenotypes for gene: MAPK1 were set to MAPK1-related Neurodevelopmental Disorder Mode of pathogenicity for gene: MAPK1 was set to Other |
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DDG2P v3.11 | MAN2C1 |
Achchuthan Shanmugasundram gene: MAN2C1 was added gene: MAN2C1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MAN2C1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MAN2C1 were set to 35045343 Phenotypes for gene: MAN2C1 were set to MAN2C1-associated neurodevelopmental disorder with cerebral malformations |
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DDG2P v3.11 | MAN2A2 |
Achchuthan Shanmugasundram gene: MAN2A2 was added gene: MAN2A2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: MAN2A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MAN2A2 were set to 36357165 Phenotypes for gene: MAN2A2 were set to MAN2A2-related disorder of glycosylation Mode of pathogenicity for gene: MAN2A2 was set to Other |
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DDG2P v3.11 | MADD |
Achchuthan Shanmugasundram gene: MADD was added gene: MADD was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MADD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MADD were set to 32761064 Phenotypes for gene: MADD were set to MADD-related developmental disorder |
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DDG2P v3.11 | LTBP1 |
Achchuthan Shanmugasundram gene: LTBP1 was added gene: LTBP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: LTBP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LTBP1 were set to 33991472 Phenotypes for gene: LTBP1 were set to LTBP1-related cutis laxa and craniosynostosis |
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DDG2P v3.11 | LMOD3 |
Achchuthan Shanmugasundram gene: LMOD3 was added gene: LMOD3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: LMOD3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LMOD3 were set to 31572445; 30642739; 28815944; 30291184; 25250574; 29331079; 32008911 Phenotypes for gene: LMOD3 were set to NEMALINE MYOPATHY 10, OMIM:616165 |
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DDG2P v3.11 | LMNB2 |
Achchuthan Shanmugasundram gene: LMNB2 was added gene: LMNB2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: LMNB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: LMNB2 were set to 33033404 Phenotypes for gene: LMNB2 were set to LMNB2-related Primary Microcephaly Mode of pathogenicity for gene: LMNB2 was set to Other |
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DDG2P v3.11 | LMNB1 |
Achchuthan Shanmugasundram gene: LMNB1 was added gene: LMNB1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: LMNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: LMNB1 were set to 32910914; 33033404 Phenotypes for gene: LMNB1 were set to LMNB1-associated developmental disorder Mode of pathogenicity for gene: LMNB1 was set to Other |
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DDG2P v3.11 | LMBRD2 |
Achchuthan Shanmugasundram gene: LMBRD2 was added gene: LMBRD2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: LMBRD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: LMBRD2 were set to 32820033 Phenotypes for gene: LMBRD2 were set to LMBRD2-associated intellectual disability Mode of pathogenicity for gene: LMBRD2 was set to Other |
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DDG2P v3.11 | LIFR |
Achchuthan Shanmugasundram gene: LIFR was added gene: LIFR was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: LIFR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LIFR were set to 27194968; 14740318 Phenotypes for gene: LIFR were set to Stuve-Wiedeman syndrome, OMIM:601559 |
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DDG2P v3.11 | LETM1 |
Achchuthan Shanmugasundram gene: LETM1 was added gene: LETM1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: LETM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LETM1 were set to 36055214 Phenotypes for gene: LETM1 were set to LETM1-related neurodevelopmental disorder Mode of pathogenicity for gene: LETM1 was set to Other |
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DDG2P v3.11 | KLF8 | Achchuthan Shanmugasundram Mode of inheritance for gene KLF8 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.11 | KLF7 |
Achchuthan Shanmugasundram gene: KLF7 was added gene: KLF7 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KLF7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KLF7 were set to 29251763 Phenotypes for gene: KLF7 were set to KLF7-related developmental disorder Mode of pathogenicity for gene: KLF7 was set to Other |
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DDG2P v3.11 | KIF5B |
Achchuthan Shanmugasundram gene: KIF5B was added gene: KIF5B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KIF5B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KIF5B were set to 36018820; 35342932 Phenotypes for gene: KIF5B were set to KIF5B-related disease Mode of pathogenicity for gene: KIF5B was set to Other |
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DDG2P v3.11 | KIF5A |
Achchuthan Shanmugasundram gene: KIF5A was added gene: KIF5A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KIF5A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KIF5A were set to 27463701; 27414745 Phenotypes for gene: KIF5A were set to KIF5A-associated severe neonatal myoclonus, OMIM:617235 |
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DDG2P v3.11 | KIF3B |
Achchuthan Shanmugasundram gene: KIF3B was added gene: KIF3B was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: KIF3B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KIF3B were set to 32386558 Phenotypes for gene: KIF3B were set to KIF3B-related ciliopathy Mode of pathogenicity for gene: KIF3B was set to Other |
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DDG2P v3.11 | KIAA0391 |
Achchuthan Shanmugasundram gene: KIAA0391 was added gene: KIAA0391 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: KIAA0391 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIAA0391 were set to 34715011 Phenotypes for gene: KIAA0391 were set to PRORP-related mitochondrial disorder |
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DDG2P v3.11 | KDM4B |
Achchuthan Shanmugasundram gene: KDM4B was added gene: KDM4B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KDM4B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KDM4B were set to 33232677 Phenotypes for gene: KDM4B were set to KDM4B-related Developmental Disorder |
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DDG2P v3.11 | KDM2B |
Achchuthan Shanmugasundram gene: KDM2B was added gene: KDM2B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KDM2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KDM2B were set to 36322151 Phenotypes for gene: KDM2B were set to KDM2B-related neurodevelopmental disorder |
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DDG2P v3.11 | KDELR2 |
Achchuthan Shanmugasundram gene: KDELR2 was added gene: KDELR2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KDELR2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KDELR2 were set to 33053334 Phenotypes for gene: KDELR2 were set to KDELR2-related Osteogenesis Imperfecta |
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DDG2P v3.11 | KCNK3 |
Achchuthan Shanmugasundram gene: KCNK3 was added gene: KCNK3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KCNK3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KCNK3 were set to 33057194 Phenotypes for gene: KCNK3 were set to KCNK3-related developmental disorder (monoallelic) Mode of pathogenicity for gene: KCNK3 was set to Other |
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DDG2P v3.11 | KCND3 |
Achchuthan Shanmugasundram gene: KCND3 was added gene: KCND3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KCND3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KCND3 were set to KCND3-related developmental disorder (monoallelic) Mode of pathogenicity for gene: KCND3 was set to Other |
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DDG2P v3.11 | KCNA1 |
Achchuthan Shanmugasundram gene: KCNA1 was added gene: KCNA1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: KCNA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: KCNA1 were set to 30055040; 33355533; 31586945 Phenotypes for gene: KCNA1 were set to KCNA1-related epileptic encephalopathy, biallelic; KCNA1-related epileptic encephalopathy, monoallelic Mode of pathogenicity for gene: KCNA1 was set to Other |
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DDG2P v3.11 | KATNB1 |
Achchuthan Shanmugasundram gene: KATNB1 was added gene: KATNB1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KATNB1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KATNB1 were set to 25521378; 25521379 Phenotypes for gene: KATNB1 were set to KATNB1- associated COMPLEX CEREBRAL MALFORMATIONS |
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DDG2P v3.11 | KAT5 |
Achchuthan Shanmugasundram gene: KAT5 was added gene: KAT5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KAT5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KAT5 were set to 32822602 Phenotypes for gene: KAT5 were set to KAT5-related Neurodevelopmental Syndrome Mode of pathogenicity for gene: KAT5 was set to Other |
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DDG2P v3.11 | JMJD1C |
Achchuthan Shanmugasundram gene: JMJD1C was added gene: JMJD1C was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: JMJD1C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: JMJD1C were set to 26181491; 31954878 Phenotypes for gene: JMJD1C were set to JMJD1C-related neurodevelopmental disorder |
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DDG2P v3.11 | JARID2 |
Achchuthan Shanmugasundram gene: JARID2 was added gene: JARID2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: JARID2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: JARID2 were set to 33077894; 35533077 Phenotypes for gene: JARID2 were set to JARID2-related Neurodevelopmental Disorder |
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DDG2P v3.11 | JAG2 |
Achchuthan Shanmugasundram gene: JAG2 was added gene: JAG2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: JAG2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: JAG2 were set to 33861953 Phenotypes for gene: JAG2 were set to JAG2-related muscular dystrophy |
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DDG2P v3.11 | IREB2 |
Achchuthan Shanmugasundram gene: IREB2 was added gene: IREB2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: IREB2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IREB2 were set to 35602653; 31243445; 30915432 Phenotypes for gene: IREB2 were set to IREB2-related neurodevelopmental disorder |
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DDG2P v3.11 | IQSEC2 |
Achchuthan Shanmugasundram Mode of inheritance for gene IQSEC2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: IQSEC2 were updated from 3177466; 7943039; 20473311 to 29026562; 24306141; 26733290; 26793055; 27665735; 30206421; 23674175; 31415821; 3177466; 31490346; 7943039; 31829726; 28295038; 20473311; 28815955; 30666632 |
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DDG2P v3.11 | IQSEC1 |
Achchuthan Shanmugasundram gene: IQSEC1 was added gene: IQSEC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: IQSEC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IQSEC1 were set to 31607425 Phenotypes for gene: IQSEC1 were set to Intellectual Disability, Developmental Delay, and Short Stature Mode of pathogenicity for gene: IQSEC1 was set to Other |
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DDG2P v3.11 | IPO8 |
Achchuthan Shanmugasundram gene: IPO8 was added gene: IPO8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: IPO8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IPO8 were set to 34010604; 34010605 Phenotypes for gene: IPO8 were set to IPO8-related syndromic thoracic aortic aneurysm |
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DDG2P v3.11 | IFT74 |
Achchuthan Shanmugasundram gene: IFT74 was added gene: IFT74 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: IFT74 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IFT74 were set to 27486776; 33748949; 32144365; 33531668 Phenotypes for gene: IFT74 were set to IFT74-associated ciliopathy, OMIM:617119 |
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DDG2P v3.11 | HYAL2 |
Achchuthan Shanmugasundram gene: HYAL2 was added gene: HYAL2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HYAL2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HYAL2 were set to 28081210; 34906488 Phenotypes for gene: HYAL2 were set to HYAL2-related syndrome with cleft lip and palate and congenital cardiac anomalies |
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DDG2P v3.11 | HUWE1 |
Achchuthan Shanmugasundram Mode of inheritance for gene HUWE1 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Mode of pathogenicity for gene HUWE1 was changed from Other - please provide details in the comments to Other Publications for gene: HUWE1 were updated from 7943042; 18252223 to 7943042; 29180823; 18252223; 23721686 |
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DDG2P v3.11 | HS2ST1 |
Achchuthan Shanmugasundram gene: HS2ST1 was added gene: HS2ST1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HS2ST1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HS2ST1 were set to 33159882 Phenotypes for gene: HS2ST1 were set to HS2ST1-related Developmental Disorder |
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DDG2P v3.11 | HPDL |
Achchuthan Shanmugasundram gene: HPDL was added gene: HPDL was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HPDL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HPDL were set to 32707086 Phenotypes for gene: HPDL were set to HPDL Neurodegenerative Disease |
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DDG2P v3.11 | HNRNPH1 |
Achchuthan Shanmugasundram gene: HNRNPH1 was added gene: HNRNPH1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HNRNPH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: HNRNPH1 were set to 29938792; 32335897 Phenotypes for gene: HNRNPH1 were set to HNRNPH1-related neurodevelopmental disorder |
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DDG2P v3.11 | HNRNPD |
Achchuthan Shanmugasundram gene: HNRNPD was added gene: HNRNPD was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HNRNPD was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: HNRNPD were set to 33057194 Phenotypes for gene: HNRNPD were set to HNRNPD-related developmental disorder (monoallelic) |
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DDG2P v3.11 | HNRNPA2B1 |
Achchuthan Shanmugasundram gene: HNRNPA2B1 was added gene: HNRNPA2B1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HNRNPA2B1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: HNRNPA2B1 were set to 35484142 Phenotypes for gene: HNRNPA2B1 were set to Early-onset oculopharyngeal muscular dystrophy |
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DDG2P v3.11 | HMGB1 |
Achchuthan Shanmugasundram gene: HMGB1 was added gene: HMGB1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HMGB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: HMGB1 were set to 36755093; 34164801 Phenotypes for gene: HMGB1 were set to HMGB1-related brachyphalangy, polydactyly and tibial aplasia syndrome; HMGB1-related intellectual disability |
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DDG2P v3.11 | HK1 |
Achchuthan Shanmugasundram gene: HK1 was added gene: HK1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HK1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: HK1 were set to HK1-related developmental disorder (monoallelic) |
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DDG2P v3.11 | HIST1H2AC |
Achchuthan Shanmugasundram gene: HIST1H2AC was added gene: HIST1H2AC was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: HIST1H2AC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: HIST1H2AC were set to HIST1H2AC-related developmental disorder (monoallelic) |
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DDG2P v3.11 | HIRA |
Achchuthan Shanmugasundram gene: HIRA was added gene: HIRA was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: HIRA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: HIRA were set to 33417013 Phenotypes for gene: HIRA were set to HIRA-related neurodevelopmental disorder |
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DDG2P v3.11 | HERC2 |
Achchuthan Shanmugasundram gene: HERC2 was added gene: HERC2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HERC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HERC2 were set to 32571899; 23243086; 30902390; 23065719 Phenotypes for gene: HERC2 were set to HERC2-related neurodevelopmental disorder, OMIM:615516 |
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DDG2P v3.11 | HERC1 |
Achchuthan Shanmugasundram gene: HERC1 was added gene: HERC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HERC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HERC1 were set to 28323226; 27108999; 26153217; 26138117 Phenotypes for gene: HERC1 were set to MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION, OMIM:617011 |
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DDG2P v3.11 | HACD1 |
Achchuthan Shanmugasundram gene: HACD1 was added gene: HACD1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HACD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HACD1 were set to 32426512; 33354762; 23933735 Phenotypes for gene: HACD1 were set to HACD1-related congenital myopathy |
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DDG2P v3.11 | HAAO |
Achchuthan Shanmugasundram gene: HAAO was added gene: HAAO was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HAAO was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HAAO were set to 33942433; 28792876 Phenotypes for gene: HAAO were set to NAD deficiency disorder |
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DDG2P v3.11 | H3F3B |
Achchuthan Shanmugasundram gene: H3F3B was added gene: H3F3B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: H3F3B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: H3F3B were set to 33268356 Phenotypes for gene: H3F3B were set to H3F3B associated neurodevelopmental disorder Mode of pathogenicity for gene: H3F3B was set to Other |
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DDG2P v3.11 | GTPBP2 |
Achchuthan Shanmugasundram gene: GTPBP2 was added gene: GTPBP2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GTPBP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GTPBP2 were set to 26675814; 30790272; 29449720 Phenotypes for gene: GTPBP2 were set to JABERI-ELAHI SYNDROME, OMIM:617988 |
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DDG2P v3.11 | GTF2IRD1 |
Achchuthan Shanmugasundram gene: GTF2IRD1 was added gene: GTF2IRD1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: GTF2IRD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GTF2IRD1 were set to 36308390 Phenotypes for gene: GTF2IRD1 were set to GTF2IRD1-related neurodevelopmental disorder Mode of pathogenicity for gene: GTF2IRD1 was set to Other |
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DDG2P v3.11 | GRM7 |
Achchuthan Shanmugasundram gene: GRM7 was added gene: GRM7 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GRM7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GRM7 were set to 32286009; 28097321; 27435318 Phenotypes for gene: GRM7 were set to GRM7-related neurodevelopmental disorder |
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DDG2P v3.11 | GRID2 |
Achchuthan Shanmugasundram gene: GRID2 was added gene: GRID2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GRID2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: GRID2 were set to 31183084; 25841024; 24078737; 23611888; 28856174 Phenotypes for gene: GRID2 were set to GRID2-related cerebellar ataxia, biallelic; GRID2-related cerebellar ataxia, monoallelic |
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DDG2P v3.11 | GRIA2 |
Achchuthan Shanmugasundram gene: GRIA2 was added gene: GRIA2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GRIA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GRIA2 were set to GRIA2-related developmental disorder (monoallelic) |
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DDG2P v3.11 | GRIA1 |
Achchuthan Shanmugasundram gene: GRIA1 was added gene: GRIA1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GRIA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GRIA1 were set to 23033978; 35675825 Phenotypes for gene: GRIA1 were set to GRIA1-related neurodevelopmental disorder |
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DDG2P v3.11 | GREB1L |
Achchuthan Shanmugasundram gene: GREB1L was added gene: GREB1L was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GREB1L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GREB1L were set to 29261186; 32378186; 32598191; 29220675; 29100090; 31424080; 29100091 Phenotypes for gene: GREB1L were set to Renal hypodysplasia/aplasia 3, OMIM:617805 |
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DDG2P v3.11 | GPHN |
Achchuthan Shanmugasundram gene: GPHN was added gene: GPHN was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: GPHN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GPHN were set to 11095995; 22040219 Phenotypes for gene: GPHN were set to GPHN-related molybdenum cofactor deficiency, OMIM:615501 |
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DDG2P v3.11 | GOLGA2 |
Achchuthan Shanmugasundram gene: GOLGA2 was added gene: GOLGA2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GOLGA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GOLGA2 were set to 26742501; 34424553 Phenotypes for gene: GOLGA2 were set to GOLGA2-related myopathy, seizures and microcephaly |
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DDG2P v3.11 | GNE |
Achchuthan Shanmugasundram gene: GNE was added gene: GNE was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: GNE was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: GNE were set to 11486897; 35121750; 11326336; 10356312; 29923088; 27142465; 10330343; 32053088 Phenotypes for gene: GNE were set to GNE-associated congenital myopathy; GNE-associated sialuria, OMIM:269921 Mode of pathogenicity for gene: GNE was set to Other |
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DDG2P v3.11 | GNB2 |
Achchuthan Shanmugasundram gene: GNB2 was added gene: GNB2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GNB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GNB2 were set to 28219978; 33057194; 34183358; 31698099 Phenotypes for gene: GNB2 were set to GNB2-related developmental disorder (monoallelic) Mode of pathogenicity for gene: GNB2 was set to Other |
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DDG2P v3.11 | GLRB |
Achchuthan Shanmugasundram gene: GLRB was added gene: GLRB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GLRB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GLRB were set to 24030948; 32911248; 23182654; 23184146; 21391991; 23238346; 11929858; 33323420 Phenotypes for gene: GLRB were set to GLRB-related hyperexplexia, biallelic, OMIM:614619; GLRB-related hyperexplexia, monoallelic |
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DDG2P v3.11 | GLRA1 |
Achchuthan Shanmugasundram gene: GLRA1 was added gene: GLRA1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GLRA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: GLRA1 were set to 24030948; 20631190; 9920650; 32319239; 30109271; 24970905; 28985719; 25036534; 32332682 Phenotypes for gene: GLRA1 were set to GLRA1-related hyperexplexia, biallelic, OMIM:149400; GLRA1-related hyperexplexia, monoallelic, OMIM:149400 |
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DDG2P v3.11 | GIGYF1 |
Achchuthan Shanmugasundram gene: GIGYF1 was added gene: GIGYF1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GIGYF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GIGYF1 were set to 33057194 Phenotypes for gene: GIGYF1 were set to GIGYF1-related developmental disorder (monoallelic) |
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DDG2P v3.11 | GEMIN5 |
Achchuthan Shanmugasundram gene: GEMIN5 was added gene: GEMIN5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GEMIN5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GEMIN5 were set to 33963192 Phenotypes for gene: GEMIN5 were set to GEMIN5-associated neurodevelopmental disorder with cerebellar atrophy and motor dysfunction, OMIM:619333 |
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DDG2P v3.11 | GEMIN4 |
Achchuthan Shanmugasundram gene: GEMIN4 was added gene: GEMIN4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GEMIN4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GEMIN4 were set to 30237576; 35861185; 27878435; 25558065 Phenotypes for gene: GEMIN4 were set to NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES, OMIM:617913 Mode of pathogenicity for gene: GEMIN4 was set to Other |
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DDG2P v3.11 | GDF11 |
Achchuthan Shanmugasundram gene: GDF11 was added gene: GDF11 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GDF11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GDF11 were set to 31215115; 34113007 Phenotypes for gene: GDF11 were set to GDF11-related vertebral hypersegmentation, orofacial anomalies and neurodevelopmental disorder., OMIM:619122 |
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DDG2P v3.11 | GBE1 |
Achchuthan Shanmugasundram gene: GBE1 was added gene: GBE1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GBE1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GBE1 were set to 33897756; 32455116; 27546458; 30345254; 31747834; 32374048; 33782433; 30228975; 30311141; 30303820 Phenotypes for gene: GBE1 were set to GBE1-associated Glycogen storage disease IV, OMIM:232500 |
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DDG2P v3.11 | GATA3 |
Achchuthan Shanmugasundram gene: GATA3 was added gene: GATA3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GATA3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GATA3 were set to 25510779; 15830275; 30396722; 29026277; 26268891; 23291697; 26316437; 21834031; 27387476; 19723756; 23203342; 29593425; 29073906; 29025137; 25771973; 21242646; 21157112; 21120445; 11389161; 23186964; 23052618; 16509533; 25124981; 31885872; 19952462; 26777049; 19248180; 24434941; 15705923; 26514990; 26800885; 28566604; 19253381; 30534854; 10935639; 21399899; 28303854; 17309062 Phenotypes for gene: GATA3 were set to HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE, OMIM:146255 |
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DDG2P v3.11 | GAN |
Achchuthan Shanmugasundram gene: GAN was added gene: GAN was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GAN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GAN were set to 11062483; 29876741; 20949505; 30246730; 19231187; 30532362 Phenotypes for gene: GAN were set to Giant axonal neuropathy 1 |
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DDG2P v3.11 | GABRG1 |
Achchuthan Shanmugasundram gene: GABRG1 was added gene: GABRG1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: GABRG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GABRG1 were set to 36121006 Phenotypes for gene: GABRG1 were set to GABRG1-associated epileptic encephalopathy Mode of pathogenicity for gene: GABRG1 was set to Other |
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DDG2P v3.11 | GABBR1 |
Achchuthan Shanmugasundram gene: GABBR1 was added gene: GABBR1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GABBR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GABBR1 were set to 36103875 Phenotypes for gene: GABBR1 were set to GABBR1-associated neurodevelopmental disorder Mode of pathogenicity for gene: GABBR1 was set to Other |
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DDG2P v3.11 | FZR1 |
Achchuthan Shanmugasundram gene: FZR1 was added gene: FZR1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FZR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FZR1 were set to 31318984; 34788397 Phenotypes for gene: FZR1 were set to FZR1-related intellectual disability and epilepsy Mode of pathogenicity for gene: FZR1 was set to Other |
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DDG2P v3.11 | FXR1 |
Achchuthan Shanmugasundram gene: FXR1 was added gene: FXR1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FXR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FXR1 were set to 35393337; 30770808 Phenotypes for gene: FXR1 were set to FXR1-related congenital myopathy |
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DDG2P v3.11 | FRMD5 |
Achchuthan Shanmugasundram gene: FRMD5 was added gene: FRMD5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FRMD5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FRMD5 were set to 36206744 Phenotypes for gene: FRMD5 were set to FRMD5-related developmental disorder Mode of pathogenicity for gene: FRMD5 was set to Other |
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DDG2P v3.11 | FRA10AC1 |
Achchuthan Shanmugasundram gene: FRA10AC1 was added gene: FRA10AC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FRA10AC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FRA10AC1 were set to 35871492; 35821753; 34694367 Phenotypes for gene: FRA10AC1 were set to FRA10AC1-related neurodevelopmental disorder |
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DDG2P v3.11 | FOXP4 |
Achchuthan Shanmugasundram gene: FOXP4 was added gene: FOXP4 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: FOXP4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FOXP4 were set to 33110267 Phenotypes for gene: FOXP4 were set to FOXP4-related Developmental Disorder |
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DDG2P v3.11 | FOXJ1 |
Achchuthan Shanmugasundram gene: FOXJ1 was added gene: FOXJ1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FOXJ1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FOXJ1 were set to 31630787 Phenotypes for gene: FOXJ1 were set to Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry |
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DDG2P v3.11 | FOXI3 |
Achchuthan Shanmugasundram gene: FOXI3 was added gene: FOXI3 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: FOXI3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FOXI3 were set to 36260083 Phenotypes for gene: FOXI3 were set to FOXI3-related microtia and craniofacial microsomia Mode of pathogenicity for gene: FOXI3 was set to Other |
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DDG2P v3.11 | FKBP10 |
Achchuthan Shanmugasundram gene: FKBP10 was added gene: FKBP10 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FKBP10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FKBP10 were set to 20362275; 21567934; 35278031; 20839288 Phenotypes for gene: FKBP10 were set to BRUCK SYNDROME TYPE 1 |
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DDG2P v3.11 | FGF14 |
Achchuthan Shanmugasundram gene: FGF14 was added gene: FGF14 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FGF14 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FGF14 were set to 30607796; 25566820; 21600715 Phenotypes for gene: FGF14 were set to FGF14-related episodic ataxia |
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DDG2P v3.11 | FGF13 |
Achchuthan Shanmugasundram gene: FGF13 was added gene: FGF13 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FGF13 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: FGF13 were set to 33245860 Phenotypes for gene: FGF13 were set to FGF13-related neurodevelopmental disorder (X-linked dominant); FGF13-related neurodevelopmental disorder (hemizygous) Mode of pathogenicity for gene: FGF13 was set to Other |
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DDG2P v3.11 | FEM1C |
Achchuthan Shanmugasundram gene: FEM1C was added gene: FEM1C was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: FEM1C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FEM1C were set to 36336956 Phenotypes for gene: FEM1C were set to FEM1C-related developmental disorder Mode of pathogenicity for gene: FEM1C was set to Other |
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DDG2P v3.11 | FBXW7 |
Achchuthan Shanmugasundram gene: FBXW7 was added gene: FBXW7 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FBXW7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FBXW7 were set to 33057194 Phenotypes for gene: FBXW7 were set to FBXW7-related developmental disorder (monoallelic) Mode of pathogenicity for gene: FBXW7 was set to Other |
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DDG2P v3.11 | FBXO28 |
Achchuthan Shanmugasundram gene: FBXO28 was added gene: FBXO28 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FBXO28 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FBXO28 were set to 30160831; 33280099 Phenotypes for gene: FBXO28 were set to FBX028-related developmental and epileptic encephalopathy with profound intellectual disability Mode of pathogenicity for gene: FBXO28 was set to Other |
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DDG2P v3.11 | EXOSC2 |
Achchuthan Shanmugasundram gene: EXOSC2 was added gene: EXOSC2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: EXOSC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EXOSC2 were set to 36069504; 26843489 Phenotypes for gene: EXOSC2 were set to EXOSC2-associated short stature, hearing loss, retinitis pigmentosa, and distinctive facies syndrome |
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DDG2P v3.11 | EPCAM |
Achchuthan Shanmugasundram gene: EPCAM was added gene: EPCAM was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: EPCAM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EPCAM were set to 21315192; 24048167; 24142340; 18572020; 20034091; 26684320; 27875355; 19820410 Phenotypes for gene: EPCAM were set to DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL, OMIM:613217 |
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DDG2P v3.11 | EMC10 |
Achchuthan Shanmugasundram gene: EMC10 was added gene: EMC10 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: EMC10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EMC10 were set to 33531666 Phenotypes for gene: EMC10 were set to EMC10-related neurodevelopmental disorder |
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DDG2P v3.11 | ELFN1 |
Achchuthan Shanmugasundram gene: ELFN1 was added gene: ELFN1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: ELFN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ELFN1 were set to 34509675 Phenotypes for gene: ELFN1 were set to ELFN1-related intellectual disability and epilepsy |
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DDG2P v3.11 | EIF5A |
Achchuthan Shanmugasundram gene: EIF5A was added gene: EIF5A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: EIF5A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: EIF5A were set to 33547280 Phenotypes for gene: EIF5A were set to EIF5A-related craniofacial-neurodevelopmental disorder |
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DDG2P v3.11 | EIF2B5 |
Achchuthan Shanmugasundram gene: EIF2B5 was added gene: EIF2B5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: EIF2B5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EIF2B5 were set to 28939701; 25457085; 25230711; 25089094; 25758335; 14572143; 15776425 Phenotypes for gene: EIF2B5 were set to EIF2B5-RELATED LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, OMIM:603896 |
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DDG2P v3.11 | EIF2B4 |
Achchuthan Shanmugasundram gene: EIF2B4 was added gene: EIF2B4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: EIF2B4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EIF2B4 were set to 30073106; 26043506; 25089094; 31385086; 18539998; 14572143 Phenotypes for gene: EIF2B4 were set to EIF2B4-RELATED LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, OMIM:603896 |
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DDG2P v3.11 | EIF2AK2 |
Achchuthan Shanmugasundram gene: EIF2AK2 was added gene: EIF2AK2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: EIF2AK2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: EIF2AK2 were set to 32197074 Phenotypes for gene: EIF2AK2 were set to EIF2AK2-associated Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation Mode of pathogenicity for gene: EIF2AK2 was set to Other |
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DDG2P v3.11 | EIF2AK1 |
Achchuthan Shanmugasundram gene: EIF2AK1 was added gene: EIF2AK1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: EIF2AK1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: EIF2AK1 were set to 32197074 Phenotypes for gene: EIF2AK1 were set to EIF2AK1-associated Neurodevelopmental Syndrome Mode of pathogenicity for gene: EIF2AK1 was set to Other |
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DDG2P v3.11 | EFEMP2 |
Achchuthan Shanmugasundram gene: EFEMP2 was added gene: EFEMP2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: EFEMP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EFEMP2 were set to 29362193; 17937443; 30140196; 19664000; 28673110; 16685658; 22440127; 24276535; 23212998 Phenotypes for gene: EFEMP2 were set to CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, OMIM:614437 |
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DDG2P v3.11 | EEF2 |
Achchuthan Shanmugasundram gene: EEF2 was added gene: EEF2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: EEF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: EEF2 were set to EEF2-related developmental disorder (monoallelic) |
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DDG2P v3.11 | EDEM3 |
Achchuthan Shanmugasundram gene: EDEM3 was added gene: EDEM3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: EDEM3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EDEM3 were set to 34143952 Phenotypes for gene: EDEM3 were set to EDEM3-related congenital disorder of glycosylation, OMIM:619493 |
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DDG2P v3.11 | ECM1 |
Achchuthan Shanmugasundram gene: ECM1 was added gene: ECM1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ECM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ECM1 were set to 25529926; 25465029; 28434238 Phenotypes for gene: ECM1 were set to LIPOID PROTEINOSIS OF URBACH AND WIETHE, OMIM:247100 |
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DDG2P v3.11 | ECHS1 |
Achchuthan Shanmugasundram gene: ECHS1 was added gene: ECHS1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ECHS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ECHS1 were set to 25125611; 29575569; 26000322; 35856138; 25393721 Phenotypes for gene: ECHS1 were set to MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY |
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DDG2P v3.11 | DYNC2LI1 |
Achchuthan Shanmugasundram gene: DYNC2LI1 was added gene: DYNC2LI1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DYNC2LI1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DYNC2LI1 were set to 26077881; 33030252; 26130459; 28857138 Phenotypes for gene: DYNC2LI1 were set to DYNC2LI1-related short-rib polydactyly, OMIM:617088 |
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DDG2P v3.11 | DSP |
Achchuthan Shanmugasundram gene: DSP was added gene: DSP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DSP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DSP were set to 33057194 Phenotypes for gene: DSP were set to DSP-related developmental disorder Mode of pathogenicity for gene: DSP was set to Other |
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DDG2P v3.11 | DPYSL5 |
Achchuthan Shanmugasundram gene: DPYSL5 was added gene: DPYSL5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DPYSL5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DPYSL5 were set to 33894126 Phenotypes for gene: DPYSL5 were set to DPYSL5-related developmental disorder (monoallelic) Mode of pathogenicity for gene: DPYSL5 was set to Other |
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DDG2P v3.11 | DPH5 |
Achchuthan Shanmugasundram gene: DPH5 was added gene: DPH5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DPH5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DPH5 were set to 35482014 Phenotypes for gene: DPH5 were set to DPH5-related neurodevelopmental disorder |
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DDG2P v3.11 | DOHH |
Achchuthan Shanmugasundram gene: DOHH was added gene: DOHH was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DOHH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DOHH were set to 35858628 Phenotypes for gene: DOHH were set to DOHH-related neurodevelopmental disorder |
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DDG2P v3.11 | DNM1L |
Achchuthan Shanmugasundram gene: DNM1L was added gene: DNM1L was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DNM1L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DNM1L were set to 26604000; 26992161; 30850373; 27328748; 30939602; 29877124; 31475481; 30801875; 31587467 Phenotypes for gene: DNM1L were set to DNM1L-related developmental disorder (monoallelic) Mode of pathogenicity for gene: DNM1L was set to Other |
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DDG2P v3.11 | DNAJB4 |
Achchuthan Shanmugasundram gene: DNAJB4 was added gene: DNAJB4 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: DNAJB4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNAJB4 were set to 36264506 Phenotypes for gene: DNAJB4 were set to DNAJB4-related myopathy with early respiratory failure |
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DDG2P v3.11 | DNAH14 |
Achchuthan Shanmugasundram gene: DNAH14 was added gene: DNAH14 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: DNAH14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNAH14 were set to 35438214 Phenotypes for gene: DNAH14 were set to DNAH14-related Neurodevelopmental disorder |
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DDG2P v3.11 | DLG5 |
Achchuthan Shanmugasundram gene: DLG5 was added gene: DLG5 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: DLG5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: DLG5 were set to 32631816 Phenotypes for gene: DLG5 were set to DLG5-associated developmental disorder (biallelic); DLG5-associated developmental disorder (monoallelic) |
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DDG2P v3.11 | DISP1 |
Achchuthan Shanmugasundram gene: DISP1 was added gene: DISP1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: DISP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: DISP1 were set to HOLOPROSENCEPHALY, OMIM:609637 |
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DDG2P v3.11 | DDX23 |
Achchuthan Shanmugasundram gene: DDX23 was added gene: DDX23 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DDX23 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DDX23 were set to 33057194 Phenotypes for gene: DDX23 were set to DDX23-related developmental disorder (monoallelic) Mode of pathogenicity for gene: DDX23 was set to Other |
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DDG2P v3.11 | DDB1 |
Achchuthan Shanmugasundram gene: DDB1 was added gene: DDB1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DDB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DDB1 were set to 33743206 Phenotypes for gene: DDB1 were set to DDB1-associated neurodevelopmental syndrome Mode of pathogenicity for gene: DDB1 was set to Other |
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DDG2P v3.11 | DAW1 |
Achchuthan Shanmugasundram gene: DAW1 was added gene: DAW1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DAW1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DAW1 were set to 36074124 Phenotypes for gene: DAW1 were set to DAW1-associated ciliopathy |
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DDG2P v3.11 | CYFIP2 |
Achchuthan Shanmugasundram gene: CYFIP2 was added gene: CYFIP2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CYFIP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CYFIP2 were set to 29534297; 31689829; 30664714; 29667327 Phenotypes for gene: CYFIP2 were set to EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, OMIM:618468 Mode of pathogenicity for gene: CYFIP2 was set to Other |
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DDG2P v3.11 | CUX1 |
Achchuthan Shanmugasundram gene: CUX1 was added gene: CUX1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: CUX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CUX1 were set to 30014507 Phenotypes for gene: CUX1 were set to GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT |
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DDG2P v3.11 | CTU2 |
Achchuthan Shanmugasundram gene: CTU2 was added gene: CTU2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CTU2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CTU2 were set to 31301155 Phenotypes for gene: CTU2 were set to MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME, OMIM:618142 |
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DDG2P v3.11 | CTNND2 |
Achchuthan Shanmugasundram gene: CTNND2 was added gene: CTNND2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CTNND2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CTNND2 were set to 25807484; 25839933 Phenotypes for gene: CTNND2 were set to CTNND2-related neurodevelopmental disorder |
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DDG2P v3.11 | CTBP1 |
Achchuthan Shanmugasundram gene: CTBP1 was added gene: CTBP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CTBP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CTBP1 were set to CTBP1-related developmental disorder (monoallelic) |
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DDG2P v3.11 | CSNK2B |
Achchuthan Shanmugasundram gene: CSNK2B was added gene: CSNK2B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CSNK2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CSNK2B were set to CSNK2B-related developmental disorder (monoallelic) |
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DDG2P v3.11 | CSDE1 |
Achchuthan Shanmugasundram gene: CSDE1 was added gene: CSDE1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: CSDE1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CSDE1 were set to 33867523; 31579823 Phenotypes for gene: CSDE1 were set to CSDE1-associated intellectual disability and autism |
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DDG2P v3.11 | CRLS1 |
Achchuthan Shanmugasundram gene: CRLS1 was added gene: CRLS1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: CRLS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CRLS1 were set to 35147173 Phenotypes for gene: CRLS1 were set to CRLS1-related mitochondrial disorder Mode of pathogenicity for gene: CRLS1 was set to Other |
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DDG2P v3.11 | CPSF3 |
Achchuthan Shanmugasundram gene: CPSF3 was added gene: CPSF3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CPSF3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CPSF3 were set to 35121750 Phenotypes for gene: CPSF3 were set to CPSF3-associated neurodevelopmental disorder with seizures and microcephaly Mode of pathogenicity for gene: CPSF3 was set to Other |
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DDG2P v3.11 | COX16 |
Achchuthan Shanmugasundram gene: COX16 was added gene: COX16 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: COX16 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COX16 were set to 33169484 Phenotypes for gene: COX16 were set to COX16-related Developmental Disorder |
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DDG2P v3.11 | COPB2 |
Achchuthan Shanmugasundram gene: COPB2 was added gene: COPB2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: COPB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: COPB2 were set to 34450031; 29036432 Phenotypes for gene: COPB2 were set to COPB2-associated developmental delay and microcephaly, OMIM:617800; COPB2-related developmental delay and osteopenia |
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DDG2P v3.11 | COPB1 |
Achchuthan Shanmugasundram gene: COPB1 was added gene: COPB1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: COPB1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COPB1 were set to 33632302 Phenotypes for gene: COPB1 were set to COPB1-related severe intellectual disability syndrome with cataracts and variable microcephaly Mode of pathogenicity for gene: COPB1 was set to Other |
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DDG2P v3.11 | COL6A2 |
Achchuthan Shanmugasundram gene: COL6A2 was added gene: COL6A2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: COL6A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: COL6A2 were set to 34167565; 15563506; 20106987; 11381124; 16075202; 19564581; 12218063 Phenotypes for gene: COL6A2 were set to COL6A2-related Ullrich congenital muscular dystrophy (monoallelic), OMIM:254090; COL6A2-related Ullrich congenital muscular dystrophy (biallelic), OMIM:254090 |
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DDG2P v3.11 | COL27A1 |
Achchuthan Shanmugasundram gene: COL27A1 was added gene: COL27A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: COL27A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COL27A1 were set to 28322503; 28276056; 31903681; 24986830 Phenotypes for gene: COL27A1 were set to Steel Syndrome |
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DDG2P v3.11 | CNNM2 |
Achchuthan Shanmugasundram gene: CNNM2 was added gene: CNNM2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CNNM2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: CNNM2 were set to 21397062; 30026055; 24699222 Phenotypes for gene: CNNM2 were set to CNNM2-related neurodevelopmental disorder with hypomagnesemia; autosomal recessive form |
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DDG2P v3.11 | CLDN5 |
Achchuthan Shanmugasundram gene: CLDN5 was added gene: CLDN5 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: CLDN5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CLDN5 were set to 35714222 Phenotypes for gene: CLDN5 were set to CLDN5-related neurodevelopmental disorder Mode of pathogenicity for gene: CLDN5 was set to Other |
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DDG2P v3.11 | CLCN6 |
Achchuthan Shanmugasundram gene: CLCN6 was added gene: CLCN6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CLCN6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CLCN6 were set to 33217309; 28074849; 29667327 Phenotypes for gene: CLCN6 were set to CLCN6-related Developmental Disorder Mode of pathogenicity for gene: CLCN6 was set to Other |
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DDG2P v3.11 | CLCN4 |
Achchuthan Shanmugasundram Source Expert Review Green was added to CLCN4. Mode of inheritance for gene CLCN4 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females Mode of pathogenicity for gene CLCN4 was changed from Other - please provide details in the comments to Other Publications for gene: CLCN4 were updated from 23647072; 25644381 to 25644381; 27550844; 23647072 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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DDG2P v3.11 | CLCN3 |
Achchuthan Shanmugasundram gene: CLCN3 was added gene: CLCN3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CLCN3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CLCN3 were set to 34186028 Phenotypes for gene: CLCN3 were set to CLCN3-related Neurodevelopmental disorder with hypotonia and brain abnormalities, OMIM:619512; CLCN3-related Neurodevelopmental disorder with seizures and brain abnormalities, OMIM:619517 |
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DDG2P v3.11 | CHRNB1 |
Achchuthan Shanmugasundram gene: CHRNB1 was added gene: CHRNB1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CHRNB1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: CHRNB1 were set to 8872460; 10562302; 33296147; 27375219; 8651643 Phenotypes for gene: CHRNB1 were set to CHRNB1-related congenital myaesthenia, biallelic, OMIM:616314; CHRNB1-related congenital myaesthenia, monoallelic, OMIM:616313 |
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DDG2P v3.11 | CHRNA3 |
Achchuthan Shanmugasundram gene: CHRNA3 was added gene: CHRNA3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CHRNA3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CHRNA3 were set to 31708116 Phenotypes for gene: CHRNA3 were set to CHRNA3-related congenital anomalies of the kidney and urinary tract |
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DDG2P v3.11 | CHRM1 |
Achchuthan Shanmugasundram gene: CHRM1 was added gene: CHRM1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: CHRM1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CHRM1 were set to 34212451 Phenotypes for gene: CHRM1 were set to CHRM1-associated intellectual disability Mode of pathogenicity for gene: CHRM1 was set to Other |
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DDG2P v3.11 | CHKA |
Achchuthan Shanmugasundram gene: CHKA was added gene: CHKA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CHKA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CHKA were set to 35202461 Phenotypes for gene: CHKA were set to CHKA-related neurodevelopmental disorder |
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DDG2P v3.11 | CHD5 |
Achchuthan Shanmugasundram gene: CHD5 was added gene: CHD5 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: CHD5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CHD5 were set to 33944996 Phenotypes for gene: CHD5 were set to CHD5-associated neurodevelopmental disorder with intellectual disability, speech delay and epilepsy |
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DDG2P v3.11 | CHD1 |
Achchuthan Shanmugasundram gene: CHD1 was added gene: CHD1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CHD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CHD1 were set to 28866611 Phenotypes for gene: CHD1 were set to CHD1-related neurodevelopment disorder |
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DDG2P v3.11 | CEP85L |
Achchuthan Shanmugasundram gene: CEP85L was added gene: CEP85L was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CEP85L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CEP85L were set to 32097630 Phenotypes for gene: CEP85L were set to CEP85L-associated posterior-predominant lissencephaly, OMIM:618873 |
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DDG2P v3.11 | CELF2 |
Achchuthan Shanmugasundram gene: CELF2 was added gene: CELF2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CELF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CELF2 were set to 33131106 Phenotypes for gene: CELF2 were set to CELF2-related neurodevelopmental disorder |
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DDG2P v3.11 | CDK19 |
Achchuthan Shanmugasundram gene: CDK19 was added gene: CDK19 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CDK19 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CDK19 were set to 32330417 Phenotypes for gene: CDK19 were set to CDK19-associated Intellectual Disability and Epileptic Encephalopathy Mode of pathogenicity for gene: CDK19 was set to Other |
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DDG2P v3.11 | CDK16 |
Achchuthan Shanmugasundram Mode of inheritance for gene CDK16 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: CDK16 were updated from 25644381 to 25644381; 36323681 |
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DDG2P v3.11 | CDH11 |
Achchuthan Shanmugasundram gene: CDH11 was added gene: CDH11 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CDH11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CDH11 were set to 30194892; 28988429; 29271567; 34278706 Phenotypes for gene: CDH11 were set to CDH11-related, OMIM:211380 |
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DDG2P v3.11 | CDC42BPB |
Achchuthan Shanmugasundram gene: CDC42BPB was added gene: CDC42BPB was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: CDC42BPB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CDC42BPB were set to 32031333 Phenotypes for gene: CDC42BPB were set to CDC42BPB-related Neurodevelopmental Disorder |
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DDG2P v3.11 | CDC42 |
Achchuthan Shanmugasundram gene: CDC42 was added gene: CDC42 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CDC42 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CDC42 were set to 26708094; 29394990; 26386261 Phenotypes for gene: CDC42 were set to CDC42-related Neurodevelopmental Disorder Mode of pathogenicity for gene: CDC42 was set to Other |
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DDG2P v3.11 | CDC40 |
Achchuthan Shanmugasundram gene: CDC40 was added gene: CDC40 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: CDC40 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CDC40 were set to 33220177 Phenotypes for gene: CDC40 were set to CDC40-related Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly Mode of pathogenicity for gene: CDC40 was set to Other |
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DDG2P v3.11 | CCDC32 |
Achchuthan Shanmugasundram gene: CCDC32 was added gene: CCDC32 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CCDC32 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CCDC32 were set to 35451546; 32307552 Phenotypes for gene: CCDC32 were set to CCDC32-associated neurodevelopmental syndrome |
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DDG2P v3.11 | CANT1 |
Achchuthan Shanmugasundram gene: CANT1 was added gene: CANT1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CANT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CANT1 were set to 19853239 Phenotypes for gene: CANT1 were set to Desbuquois dysplasia 1, OMIM:251450 |
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DDG2P v3.11 | CAMSAP1 |
Achchuthan Shanmugasundram gene: CAMSAP1 was added gene: CAMSAP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CAMSAP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CAMSAP1 were set to 36283405 Phenotypes for gene: CAMSAP1 were set to CAMSAP1-associated neuronal migration disorder |
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DDG2P v3.11 | CAMK2G |
Achchuthan Shanmugasundram gene: CAMK2G was added gene: CAMK2G was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CAMK2G was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CAMK2G were set to 23033978; 30184290 Phenotypes for gene: CAMK2G were set to INTELLECTUAL DEVELOPMENTAL DISORDER 59, OMIM:618522 Mode of pathogenicity for gene: CAMK2G was set to Other |
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DDG2P v3.11 | CACNA2D1 |
Achchuthan Shanmugasundram gene: CACNA2D1 was added gene: CACNA2D1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: CACNA2D1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CACNA2D1 were set to 35293990 Phenotypes for gene: CACNA2D1 were set to CACNA2D1-related neurodevelopmental disorder Mode of pathogenicity for gene: CACNA2D1 was set to Other |
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DDG2P v3.11 | BUB1 |
Achchuthan Shanmugasundram gene: BUB1 was added gene: BUB1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: BUB1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BUB1 were set to 35044816 Phenotypes for gene: BUB1 were set to BUB1-related microcephaly and developmental disorder |
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DDG2P v3.11 | BSN |
Achchuthan Shanmugasundram gene: BSN was added gene: BSN was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: BSN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: BSN were set to 36600631 Phenotypes for gene: BSN were set to BSN-related epilepsy Mode of pathogenicity for gene: BSN was set to Other |
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DDG2P v3.11 | BRF1 |
Achchuthan Shanmugasundram gene: BRF1 was added gene: BRF1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: BRF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BRF1 were set to 27748960; 25561519; 32896090 Phenotypes for gene: BRF1 were set to BRF1-related cerebellofaciodental syndrome, OMIM:616202 |
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DDG2P v3.11 | BICRA |
Achchuthan Shanmugasundram gene: BICRA was added gene: BICRA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: BICRA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: BICRA were set to 33232675 Phenotypes for gene: BICRA were set to BICRA-related Developmental Disorder |
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DDG2P v3.11 | BCORL1 |
Achchuthan Shanmugasundram gene: BCORL1 was added gene: BCORL1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: BCORL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: BCORL1 were set to 30941876; 33810051; 34400773; 24123876 Phenotypes for gene: BCORL1 were set to Shukla-Vernon Syndrome Mode of pathogenicity for gene: BCORL1 was set to Other |
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DDG2P v3.11 | BCL11B |
Achchuthan Shanmugasundram gene: BCL11B was added gene: BCL11B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: BCL11B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: BCL11B were set to BCL11B-related developmental disorder (monoallelic) |
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DDG2P v3.11 | BCAS3 |
Achchuthan Shanmugasundram gene: BCAS3 was added gene: BCAS3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: BCAS3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BCAS3 were set to 34022130 Phenotypes for gene: BCAS3 were set to BCAS3-related neurodevelopmental disorder with thinning of corpus callosum and cerebellar atrophy |
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DDG2P v3.11 | BAZ2B |
Achchuthan Shanmugasundram gene: BAZ2B was added gene: BAZ2B was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: BAZ2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: BAZ2B were set to 31999386 Phenotypes for gene: BAZ2B were set to BAZ2B-associated neurodevelopmental disorder |
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DDG2P v3.11 | BAP1 |
Achchuthan Shanmugasundram gene: BAP1 was added gene: BAP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: BAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: BAP1 were set to 35051358 Phenotypes for gene: BAP1 were set to BAP1-associated neurodevelopmental syndrome Mode of pathogenicity for gene: BAP1 was set to Other |
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DDG2P v3.11 | B4GALT1 |
Achchuthan Shanmugasundram gene: B4GALT1 was added gene: B4GALT1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: B4GALT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: B4GALT1 were set to 32157688; 21920538; 11901181 Phenotypes for gene: B4GALT1 were set to CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IId, OMIM:607091 |
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DDG2P v3.11 | ATP9A |
Achchuthan Shanmugasundram gene: ATP9A was added gene: ATP9A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ATP9A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP9A were set to 34379057; 34764295 Phenotypes for gene: ATP9A were set to ATP9A-related neurodevelopmental disorder |
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DDG2P v3.11 | ATP6V0C |
Achchuthan Shanmugasundram gene: ATP6V0C was added gene: ATP6V0C was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ATP6V0C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ATP6V0C were set to 36074901; 33190975; 24623842; 28135719 Phenotypes for gene: ATP6V0C were set to ATP6V0C-related Developmental Disorder |
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DDG2P v3.11 | ATP6V0A1 |
Achchuthan Shanmugasundram gene: ATP6V0A1 was added gene: ATP6V0A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ATP6V0A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ATP6V0A1 were set to 33057194; 28135719; 30842224 Phenotypes for gene: ATP6V0A1 were set to ATP6V0A1-related developmental disorder (monoallelic) Mode of pathogenicity for gene: ATP6V0A1 was set to Other |
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DDG2P v3.11 | ATP5A1 |
Achchuthan Shanmugasundram gene: ATP5A1 was added gene: ATP5A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ATP5A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: ATP5A1 were set to 34483339; 23599390; 23596069 Phenotypes for gene: ATP5A1 were set to ATP5F1A-related mitochondrial encephalopathy, OMIM:615228; ATP5F1A-related failure to thrive, hyperlactatemia and hyperammonemia Mode of pathogenicity for gene: ATP5A1 was set to Other |
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DDG2P v3.11 | ATP2B1 |
Achchuthan Shanmugasundram gene: ATP2B1 was added gene: ATP2B1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ATP2B1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ATP2B1 were set to 35358416 Phenotypes for gene: ATP2B1 were set to ATP2B1-related neurodevelopmental disorder |
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DDG2P v3.11 | ATP1A2 |
Achchuthan Shanmugasundram gene: ATP1A2 was added gene: ATP1A2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ATP1A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: ATP1A2 were set to 31608932; 20837964; 17435187; 30690204; 33880529; 33493807 Phenotypes for gene: ATP1A2 were set to ATP1A2-related epileptic encephalopathy; MIGRAINE, FAMILIAL HEMIPLEGIC, ATP1A2-related; Autosomal recessive ATP1A2-related neuronal migration disorder with epilepsy |
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DDG2P v3.11 | ATL1 |
Achchuthan Shanmugasundram gene: ATL1 was added gene: ATL1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ATL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ATL1 were set to 35925862 Phenotypes for gene: ATL1 were set to ATL1-associated hereditary spastic paraplegia |
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DDG2P v3.11 | ATG4D |
Achchuthan Shanmugasundram gene: ATG4D was added gene: ATG4D was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: ATG4D was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATG4D were set to 36765070 Phenotypes for gene: ATG4D were set to ATG4D-related neurodevelopmental disorder Mode of pathogenicity for gene: ATG4D was set to Other |
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DDG2P v3.11 | ASNS |
Achchuthan Shanmugasundram gene: ASNS was added gene: ASNS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ASNS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ASNS were set to 24139043; 27743885; 32255274; 28776279; 27268761; 31720226; 30978478; 27522229; 25227173; 27469131; 29375865; 29279279; 31123592; 32481472; 25663424; 30057589; 27422383 Phenotypes for gene: ASNS were set to Asparagine synthetase deficiency, OMIM:615574 |
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DDG2P v3.11 | ARPC4 |
Achchuthan Shanmugasundram gene: ARPC4 was added gene: ARPC4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ARPC4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ARPC4 were set to 35047857 Phenotypes for gene: ARPC4 were set to ARPC4-related microcephaly and developmental delay Mode of pathogenicity for gene: ARPC4 was set to Other |
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DDG2P v3.11 | ARNT2 |
Achchuthan Shanmugasundram gene: ARNT2 was added gene: ARNT2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: ARNT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARNT2 were set to 24022475 Phenotypes for gene: ARNT2 were set to ARNT2-associated hypopituitarism, post-natal microcephaly, visual and renal anomalies, OMIM:615926 |
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DDG2P v3.11 | ARHGEF9 |
Achchuthan Shanmugasundram Source Expert Review Green was added to ARHGEF9. Mode of inheritance for gene ARHGEF9 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: ARHGEF9 were updated from 21633362 to 21633362; 28589176 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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DDG2P v3.11 | ARHGAP35 |
Achchuthan Shanmugasundram gene: ARHGAP35 was added gene: ARHGAP35 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ARHGAP35 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ARHGAP35 were set to 33057194; 28641477 Phenotypes for gene: ARHGAP35 were set to ARHGAP35-related developmental disorder (monoallelic) |
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DDG2P v3.11 | ARFGEF1 |
Achchuthan Shanmugasundram gene: ARFGEF1 was added gene: ARFGEF1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ARFGEF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ARFGEF1 were set to 34113008 Phenotypes for gene: ARFGEF1 were set to ARFGEF1-related intellectual disability and epilepsy |
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DDG2P v3.11 | ARF3 |
Achchuthan Shanmugasundram gene: ARF3 was added gene: ARF3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ARF3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ARF3 were set to 36369169 Phenotypes for gene: ARF3 were set to ARF3-related neurodevelopmental disorder Mode of pathogenicity for gene: ARF3 was set to Other |
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DDG2P v3.11 | ARF1 |
Achchuthan Shanmugasundram gene: ARF1 was added gene: ARF1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ARF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ARF1 were set to 33057194; 28868155; 34353862 Phenotypes for gene: ARF1 were set to PERIVENTRICULAR NODULAR HETEROTOPIA 8, OMIM:618615 Mode of pathogenicity for gene: ARF1 was set to Other |
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DDG2P v3.11 | AP2S1 |
Achchuthan Shanmugasundram gene: AP2S1 was added gene: AP2S1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: AP2S1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: AP2S1 were set to 33057194 Phenotypes for gene: AP2S1 were set to AP2S1-related developmental disorder (monoallelic) Mode of pathogenicity for gene: AP2S1 was set to Other |
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DDG2P v3.11 | AP1G1 |
Achchuthan Shanmugasundram gene: AP1G1 was added gene: AP1G1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: AP1G1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: AP1G1 were set to 34102099 Phenotypes for gene: AP1G1 were set to AP1G1-related intellectual disability, biallelic; AP1G1-related intellectual disability and epilepsy, monoallelic |
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DDG2P v3.11 | AP1B1 |
Achchuthan Shanmugasundram gene: AP1B1 was added gene: AP1B1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: AP1B1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AP1B1 were set to 31630791; 31630788 Phenotypes for gene: AP1B1 were set to MEDNIK-like Syndrome |
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DDG2P v3.11 | ANO1 |
Achchuthan Shanmugasundram gene: ANO1 was added gene: ANO1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: ANO1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ANO1 were set to 32487539 Phenotypes for gene: ANO1 were set to ANO1-associated intestinal disease |
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DDG2P v3.11 | ANKRD17 |
Achchuthan Shanmugasundram gene: ANKRD17 was added gene: ANKRD17 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ANKRD17 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ANKRD17 were set to 33909992 Phenotypes for gene: ANKRD17 were set to ANKRD17-associated neurodevelopmental disorder |
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DDG2P v3.11 | ANK2 |
Achchuthan Shanmugasundram gene: ANK2 was added gene: ANK2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: ANK2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ANK2 were set to 25356970; 30755392; 22542183; 28191889 Phenotypes for gene: ANK2 were set to ANK2-related neurodevelopmental disorder |
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DDG2P v3.11 | ALKBH8 |
Achchuthan Shanmugasundram gene: ALKBH8 was added gene: ALKBH8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ALKBH8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALKBH8 were set to 31079898; 33544954; 34757492 Phenotypes for gene: ALKBH8 were set to ALKBH8-related intellectual disability, microcephaly and seizures, OMIM:618504 |
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DDG2P v3.11 | ALG13 |
Achchuthan Shanmugasundram Source Expert Review Green was added to ALG13. Mode of inheritance for gene ALG13 was changed from X linked: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Mode of pathogenicity for gene ALG13 was changed from Other - please provide details in the comments to Other Publications for gene: ALG13 were updated from 22492991 to 22492991; 23934111; 28887793 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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DDG2P v3.11 | ALDH1A2 |
Achchuthan Shanmugasundram gene: ALDH1A2 was added gene: ALDH1A2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ALDH1A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALDH1A2 were set to 33565183 Phenotypes for gene: ALDH1A2 were set to ALDH1A2-related diaphragmatic hernia and pulmonary hypoplasia Mode of pathogenicity for gene: ALDH1A2 was set to Other |
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DDG2P v3.11 | AKT2 |
Achchuthan Shanmugasundram gene: AKT2 was added gene: AKT2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: AKT2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: AKT2 were set to 28541532; 26003998; 24285683; 21979934 Phenotypes for gene: AKT2 were set to AKT2-related hypoinsulinemic hypoglycemia and hemihypertrophy, OMIM:240900 Mode of pathogenicity for gene: AKT2 was set to Other |
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DDG2P v3.11 | AGTPBP1 |
Achchuthan Shanmugasundram gene: AGTPBP1 was added gene: AGTPBP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: AGTPBP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AGTPBP1 were set to 30420557; 30976113; 31102495; 28600779 Phenotypes for gene: AGTPBP1 were set to NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY, OMIM:618276 |
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DDG2P v3.11 | AGO1 |
Achchuthan Shanmugasundram gene: AGO1 was added gene: AGO1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: AGO1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: AGO1 were set to 35060114 Phenotypes for gene: AGO1 were set to AGO1-related developmental disorder (monoallelic) Mode of pathogenicity for gene: AGO1 was set to Other |
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DDG2P v3.11 | ADCY5 |
Achchuthan Shanmugasundram gene: ADCY5 was added gene: ADCY5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ADCY5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ADCY5 were set to ADCY5-related developmental disorder (monoallelic) Mode of pathogenicity for gene: ADCY5 was set to Other |
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DDG2P v3.11 | ADARB1 |
Achchuthan Shanmugasundram gene: ADARB1 was added gene: ADARB1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: ADARB1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADARB1 were set to 32220291 Phenotypes for gene: ADARB1 were set to ADARB1-associated Microcephaly, Intellectual Disability, and Seizures Mode of pathogenicity for gene: ADARB1 was set to Other |
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DDG2P v3.11 | ADAMTSL2 |
Achchuthan Shanmugasundram gene: ADAMTSL2 was added gene: ADAMTSL2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ADAMTSL2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADAMTSL2 were set to 18677313; 21415077 Phenotypes for gene: ADAMTSL2 were set to GELEOPHYSIC DYSPLASIA 1 |
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DDG2P v3.11 | ADAM22 |
Achchuthan Shanmugasundram gene: ADAM22 was added gene: ADAM22 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ADAM22 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADAM22 were set to 35373813 Phenotypes for gene: ADAM22 were set to ADAM22-associated developmental and epileptic encephalopathy |
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DDG2P v3.11 | ACER3 |
Achchuthan Shanmugasundram gene: ACER3 was added gene: ACER3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ACER3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACER3 were set to 26792856; 34281620; 32816236 Phenotypes for gene: ACER3 were set to ACER3-related leukodystrophy, OMIM:617762 |
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DDG2P v3.11 | ACBD5 |
Achchuthan Shanmugasundram gene: ACBD5 was added gene: ACBD5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ACBD5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACBD5 were set to 23105016; 27799409; 33427402 Phenotypes for gene: ACBD5 were set to ACBD5 deficiency, OMIM:618863 |
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DDG2P v3.11 | ABHD16A |
Achchuthan Shanmugasundram gene: ABHD16A was added gene: ABHD16A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ABHD16A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ABHD16A were set to 34587489 Phenotypes for gene: ABHD16A were set to ABHD16A-associated spastic paraplegia, intellectual disability and thin corpus callosum |
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DDG2P v3.11 | ABAT |
Achchuthan Shanmugasundram gene: ABAT was added gene: ABAT was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ABAT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ABAT were set to 28411234; 27903293; 27376954 Phenotypes for gene: ABAT were set to ABAT-related GABA-transaminase Deficiency |
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DDG2P v3.9 | CLCNKA | Sarah Leigh Publications for gene: CLCNKA were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.7 | SLC22A5 | Sarah Leigh Publications for gene: SLC22A5 were set to 9916797; 10051646; 2235122; 11058897; 20027113; 9634512; 10425211; 9700603; 15714519; 10480371; 3974805 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.6 | MAP4K4 |
Irina Ziravecka gene: MAP4K4 was added gene: MAP4K4 was added to DDG2P. Sources: Literature Mode of inheritance for gene: MAP4K4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MAP4K4 were set to PMID: 37126546 Phenotypes for gene: MAP4K4 were set to neurodevelopmental differences; multiple congenital anomalies Mode of pathogenicity for gene: MAP4K4 was set to Other Review for gene: MAP4K4 was set to GREEN Added comment: PMID: 37126546 - "a cohort of 26 affected individuals from 21 unrelated families with neurodevelopmental differences, cardiac issues, and CFAs who share a phenotype overlap with RASopathies and harbor a series of rare variants in MAP4K4. Functional studies in zebrafish showed that MAP4K4 variants caused hypomorphic, LOF, or DN effects." Sources: Literature |
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DDG2P v3.6 | AMOTL1 |
Irina Ziravecka gene: AMOTL1 was added gene: AMOTL1 was added to DDG2P. Sources: Other Mode of inheritance for gene: AMOTL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: AMOTL1 were set to PMID: 36751037 Phenotypes for gene: AMOTL1 were set to orofacial clefting; cardiac anomalies; tall stature Mode of pathogenicity for gene: AMOTL1 was set to Other Review for gene: AMOTL1 was set to GREEN Added comment: PMID: 36751037 - this cohort suggests that heterozygous missense variants in AMOTL1, most commonly affecting amino acid residues 157–161, define a new orofacial clefting syndrome, and indicates an important functional role for this undefined region. Sources: Other |
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DDG2P v3.6 | ETFB | Sarah Leigh Publications for gene: ETFB were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.3 | COASY | Sarah Leigh Publications for gene: COASY were set to 24360804 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v2.81 | ST3GAL3 | Sarah Leigh Publications for gene: ST3GAL3 were set to 21907012; 17120046 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v2.73 | ACO2 | Sarah Leigh Publications for gene: ACO2 were set to 22405087 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v2.70 | COL18A1 | Sarah Leigh Publications for gene: COL18A1 were set to 10942434 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v2.69 | PEX6 | Sarah Leigh Penetrance for gene PEX6 was set from to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v2.68 | PEX6 | Sarah Leigh Publications for gene: PEX6 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v2.67 | PEX6 | Sarah Leigh Added comment: Comment on mode of inheritance: The Q1_22_MOI tag has been added to this gene. The mode of inheritance for PEX6 should be set to: BOTH monoallelic and biallelic, autosomal or pseudoautosomal in order to detect the dominant Peroxisome biogenesis disorder 4B. Incomplete penetrance has been noted, in order to highlight that unaffected parents may also carry rs61753230. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v2.59 | XPNPEP3 | Sarah Leigh Publications for gene: XPNPEP3 were set to 20179356 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v2.55 | TPP2 |
Dmitrijs Rots gene: TPP2 was added gene: TPP2 was added to DDG2P. Sources: Literature Mode of inheritance for gene: TPP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TPP2 were set to PMID: 25414442 Phenotypes for gene: TPP2 were set to Developmental delay; immunodefficiency; autoimmunity Review for gene: TPP2 was set to GREEN Added comment: 14 individuals with "TRIANGLE" (TPPII-related immunodeficiency, autoimmunity, and neurodevelopmental delay with impaired glycolysis and lysosomal expansion) syndrome are summarized in 25414442, where in 9/14 DD was present, which seems to be a common feature. Sources: Literature |
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DDG2P v2.53 | FGF5 |
Anna de Burca gene: FGF5 was added gene: FGF5 was added to DDG2P. Sources: Literature Mode of inheritance for gene: FGF5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FGF5 were set to PMID: 24989505 Phenotypes for gene: FGF5 were set to Hypertrichosis; long eyelashes Penetrance for gene: FGF5 were set to Complete Review for gene: FGF5 was set to GREEN Added comment: Segregates with phenotype in two consanguineous families in publication attached. Additional unpublished case with same phenotype. Sources: Literature |
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DDG2P v2.53 | CNKSR2 | Dmitrijs Rots reviewed gene: CNKSR2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34266427; Phenotypes: Developmental delay, intellectual disability, seizures; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v2.53 | PBX1 |
Dmitrijs Rots gene: PBX1 was added gene: PBX1 was added to DDG2P. Sources: Literature Mode of inheritance for gene: PBX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PBX1 were set to Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay Review for gene: PBX1 was set to GREEN Added comment: Syndromic gene. Most of the individuals present with developmental delay, according to OMIM. Sources: Literature |
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DDG2P v2.53 | PHF6 | Ivone Leong reviewed gene: PHF6: Rating: ; Mode of pathogenicity: None; Publications: 24092917, 25099957; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v2.51 | EDNRB | Ivone Leong Publications for gene: EDNRB were set to 7778600 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v2.50 | ATG7 |
Dmitrijs Rots gene: ATG7 was added gene: ATG7 was added to DDG2P. Sources: Literature Mode of inheritance for gene: ATG7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATG7 were set to PMID:34161705 Phenotypes for gene: ATG7 were set to developmental delay; ataxia Review for gene: ATG7 was set to GREEN Added comment: Zornitsa Stark wrote for this gene in Ataxia panel: "12 individuals from 5 unrelated families reported with a complex neurodevelopmental disorder and bi-allelic variants in this gene. Age range from 21 months to 71 years of age. Main clinical features included axial hypotonia, variably impaired intellectual development with poor or absent speech, and delayed walking (up to 7 years of age) or inability to walk. All had ataxia, often with tremor or dyskinesia, as well as dysarthria associated with cerebellar hypoplasia on brain imaging. Most had optic atrophy, and some had ptosis, chronic progressive external ophthalmoplegia, retinopathy, and strabismus; 1 had early-onset cataracts. The more severely affected individuals had spastic paraplegia and inability to walk. Functional data including mouse model. " Should be also on ID panel. Sources: Literature |
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DDG2P v2.50 | RAP1GDS1 |
Dmitrijs Rots gene: RAP1GDS1 was added gene: RAP1GDS1 was added to DDG2P. Sources: Literature Mode of inheritance for gene: RAP1GDS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RAP1GDS1 were set to PMID: 33875846 Phenotypes for gene: RAP1GDS1 were set to Intellectual disability, developmental delay Review for gene: RAP1GDS1 was set to GREEN Added comment: Additional cases (three with same splice variant, which segregates in one family) and one frameshift variant reported in PMID: 33875846. Cases seem to overlap ones reported in PMID: 32431071. Sources: Literature |
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DDG2P v2.50 | TAF4 |
Dmitrijs Rots gene: TAF4 was added gene: TAF4 was added to DDG2P. Sources: Literature Mode of inheritance for gene: TAF4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TAF4 were set to 33875846 Phenotypes for gene: TAF4 were set to Developmental delay Penetrance for gene: TAF4 were set to unknown Review for gene: TAF4 was set to GREEN Added comment: From the literature: "A heterozygous de novo variant (frameshift) was reported in TAF4 by Kosmicki et al., in a patient with autism.36 The gene has no phenotypic association in OMIM (accessed 12 October 2020). Within this study, we identified two additional de novo LoF variants (splicing and nonsense) in two unrelated patients with dysmorphic features and NDD. TAF4 is highly intolerant to LoF as documented in gnomAD (pLi = 1). Expression of TAF4 varies during development and in the processes of cell differentiation; TAF4 is detected in various regions of the human brain, and it is believed to control the differentiation of human neural progenitor cells having a role in the regulation of neural development and brain function.37 The current data suggests that TAF4 haploinsufficiency leads to NDD in humans." Sources: Literature |
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DDG2P v2.50 | KPNA3 |
Dmitrijs Rots gene: KPNA3 was added gene: KPNA3 was added to DDG2P. Sources: Literature Mode of inheritance for gene: KPNA3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KPNA3 were set to PMID: 34564892 Phenotypes for gene: KPNA3 were set to Infantile onset spastic paraplegia; developmental delay Penetrance for gene: KPNA3 were set to unknown Mode of pathogenicity for gene: KPNA3 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: KPNA3 was set to GREEN Added comment: 8 reported families with de novo missense variants, that segregates with pure HSP with infantile onset and some functional data PMID: 34564892 Sources: Literature |
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DDG2P v2.49 | TMEM260 | Sarah Leigh Publications for gene: TMEM260 were set to 28318500 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v2.40 | TWIST2 | Ivone Leong Phenotypes for gene: TWIST2 were changed from ABLEPHARON MACROSTOMIA SYNDROME 200110; SETLEIS SYNDROME 227260 to ABLEPHARON MACROSTOMIA SYNDROME, OMIM:200110; Focal facial dermal dysplasia 3, Setleis type, OMIM:227260 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v2.37 | DMPK_CTG |
Arina Puzriakova changed review comment from: Comment on list classification: The genetic defect is an amplified trinucleotide CTG repeat in the 3'UTR (normal range: 5–37; pathological: >50–>2000). Evidence level for this is high - it is a confirmed DD gene for DYSTROPHIA MYOTONICA TYPE 1). As DDG2P is a component of the Paediatric disorders super panel, the the DMPK gene was demoted and this STR was added to capture this entity and ensure that cases are detected. Only relevant in a paediatric setting if it is a large expansion. A small expansion has adult onset and would be an incidental finding. Therefore, this STR will be flagged for GMS expert review to determine the appropriate 'pathogenic number of repeats' relevant to this panel.; to: Comment on list classification: The genetic defect is an amplified trinucleotide CTG repeat in the 3'UTR (normal range: 5–37; pathological: >50–>2000). Evidence level for this is high - it is a confirmed DD gene for DYSTROPHIA MYOTONICA TYPE 1). As DDG2P is a component of the Paediatric disorders super panel, the DMPK gene was demoted and this STR was added to ensure that cases are appropriately captured. Only relevant in a paediatric setting if it is a large expansion. A small expansion has adult onset and would be an incidental finding. Therefore, this STR will be flagged for GMS expert review to determine the appropriate 'pathogenic number of repeats' relevant to this panel. |
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DDG2P v2.37 | DMPK_CTG |
Arina Puzriakova changed review comment from: Comment on list classification: The genetic defect is an amplified trinucleotide CTG repeat in the 3'UTR (normal range: 5–37; pathological: >50–>2000). Evidence level for this is high - it is a confirmed DD gene for DYSTROPHIA MYOTONICA TYPE 1). As DDG2P is a component of the Paediatric disorders super panel, the DMPK_CTG STR has been added to capture this entity and ensure that cases are detected. Only relevant in a paediatric setting if it is a large expansion. A small expansion has adult onset and would be an incidental finding. Therefore, this STR will be flagged for GMS expert review to determine the appropriate 'pathogenic number of repeats' relevant to this panel.; to: Comment on list classification: The genetic defect is an amplified trinucleotide CTG repeat in the 3'UTR (normal range: 5–37; pathological: >50–>2000). Evidence level for this is high - it is a confirmed DD gene for DYSTROPHIA MYOTONICA TYPE 1). As DDG2P is a component of the Paediatric disorders super panel, the the DMPK gene was demoted and this STR was added to capture this entity and ensure that cases are detected. Only relevant in a paediatric setting if it is a large expansion. A small expansion has adult onset and would be an incidental finding. Therefore, this STR will be flagged for GMS expert review to determine the appropriate 'pathogenic number of repeats' relevant to this panel. |
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DDG2P v2.37 | DMPK_CTG |
Arina Puzriakova Added comment: Comment on list classification: The genetic defect is an amplified trinucleotide CTG repeat in the 3'UTR (normal range: 5–37; pathological: >50–>2000). Evidence level for this is high - it is a confirmed DD gene for DYSTROPHIA MYOTONICA TYPE 1). As DDG2P is a component of the Paediatric disorders super panel, the DMPK_CTG STR has been added to capture this entity and ensure that cases are detected. Only relevant in a paediatric setting if it is a large expansion. A small expansion has adult onset and would be an incidental finding. Therefore, this STR will be flagged for GMS expert review to determine the appropriate 'pathogenic number of repeats' relevant to this panel. |
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DDG2P v2.36 | DMPK_CTG |
Arina Puzriakova STR: DMPK_CTG was added STR: DMPK_CTG was added to DDG2P. Sources: Expert Review Green,Expert list Mode of inheritance for STR: DMPK_CTG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: DMPK_CTG were set to 7825566 Phenotypes for STR: DMPK_CTG were set to Myotonic dystrophy 1, OMIM:160900 |
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DDG2P v2.33 | ATP6V1A | Arina Puzriakova Publications for gene: ATP6V1A were set to 28065471 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v2.30 | ATAD3A |
Arina Puzriakova Added comment: Comment on mode of inheritance: Although the MOI has been set to 'Monoallelic' only, to reflect the different disease confidence ratings associated with each MOI in G2P, there is enough evidence in the literature to support pathogenicity of biallelic variants in ATAD3A. As DDG2P is a component panel of the Paediatric disorders super panel, the MOI should be updated to 'Both mono- and biallelic' to ensure that all cases are captured. |
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DDG2P v2.26 | FBN2 | Sarah Leigh Publications for gene: FBN2 were set to 10797416; 11281275; 9199560; 8900230; 9737771; 20799338; 9106527 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v2.22 | ADPRHL2 | Sarah Leigh Phenotypes for gene: ADPRHL2 were changed from Degenerative Pediatric Stress Induced Epileptic Ataxia Syndrome; Neurodegeneration with Developmental Delay Ataxia and Axonal Neuropathy to Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures OMIM:618170; neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures MONDO:0100095 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v2.21 | CLP1 | Sarah Leigh Publications for gene: CLP1 were set to 24766809 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v2.16 | H3F3A | Arina Puzriakova Publications for gene: H3F3A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v2.12 | PIGQ | Sarah Leigh Phenotypes for gene: PIGQ were changed from SEVERE EARLY-ONSET EPILEPSY to Multiple congenital anomalies-hypotonia-seizures syndrome-4 OMIM:618548 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v2.9 | SLC12A6 | Sarah Leigh commented on gene: SLC12A6: Associated with Agenesis of the corpus callosum with peripheral neuropathy 218000 in OMIM and as confirmed Gen2Phen gene. At least 10 biallelic variants were reported in at least 10 unrelated cases. 9/10 of these variants was terminating (PMID 12368912, 16606917, 17893295). Three de novo heterozygous missense variants have been identified in four unrelated cases with a milder phenotype of early- onset progressive Charcot- Marie-tooth disease (CMT) with or without spasticity (intermediate CMT)(PMID 31439721, 27485015). The authors of PMID 31439721 suggest that "autosomal- dominant inheritance of SLC12A6 variants also needs to be considered in patients with early- onset neuropathies". Furthermore, it will be important to understand the functional differences between the variants, as PMID 27485015 reported variant - p.Thr991Ala, resulted in increased potassium influx in Xenopus oocytes (gain-of-function), while the other missense variants identified so far had a loss-of-function effect in varying degrees (PMID 31439721). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v2.9 | SLC12A6 | Sarah Leigh Publications for gene: SLC12A6 were set to 17893295; 16606917; 21628467; 12368912 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v2.7 | GNAI1 | Rebecca Foulger Publications for gene: GNAI1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v2.6 | CNOT3 | Rebecca Foulger Publications for gene: CNOT3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v1.154 | SIM1 | Rebecca Foulger Added comment: Comment on mode of inheritance: Updated MOI from 'both MONOALLELIC and BIALLELIC' to just 'MONOALLELIC' to match the Monoallelic MOI of SIM1 on the 'Severe early-onset obesity' panel v2.0. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v1.151 | WDR4 |
Rebecca Foulger gene: WDR4 was added gene: WDR4 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: WDR4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WDR4 were set to 30079490 Phenotypes for gene: WDR4 were set to GALLOWAY-MOWAT SYNDROME 6, 618347 |
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DDG2P v1.151 | WDFY3 |
Rebecca Foulger gene: WDFY3 was added gene: WDFY3 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: WDFY3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: WDFY3 were set to 31327001 Phenotypes for gene: WDFY3 were set to Primary Microcephaly or macrocephaly with developmental delay |
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DDG2P v1.151 | TPRKB |
Rebecca Foulger gene: TPRKB was added gene: TPRKB was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: TPRKB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TPRKB were set to 28805828 Phenotypes for gene: TPRKB were set to GALLOWAY-MOWAT SYNDROME 5, 617731 Mode of pathogenicity for gene: TPRKB was set to Other - please provide details in the comments |
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DDG2P v1.151 | TP53RK |
Rebecca Foulger gene: TP53RK was added gene: TP53RK was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: TP53RK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TP53RK were set to 30053862; 28805828 Phenotypes for gene: TP53RK were set to GALLOWAY-MOWAT SYNDROME 4, 617730 |
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DDG2P v1.151 | SMPD4 |
Rebecca Foulger gene: SMPD4 was added gene: SMPD4 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: SMPD4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SMPD4 were set to 31495489 Phenotypes for gene: SMPD4 were set to Developmental Disorder with Microcephaly and Congenital Arthrogryposis |
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DDG2P v1.151 | NUP133 |
Rebecca Foulger gene: NUP133 was added gene: NUP133 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: NUP133 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NUP133 were set to 30427554 Phenotypes for gene: NUP133 were set to GALLOWAY-MOWAT SYNDROME 8, 618349 |
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DDG2P v1.151 | NPM1 |
Rebecca Foulger gene: NPM1 was added gene: NPM1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: NPM1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NPM1 were set to 31570891 Phenotypes for gene: NPM1 were set to Dyskeratosis Congenita Mode of pathogenicity for gene: NPM1 was set to Other - please provide details in the comments |
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DDG2P v1.151 | MYRF |
Rebecca Foulger gene: MYRF was added gene: MYRF was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: MYRF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MYRF were set to 31069960; 29446546; 30532227; 30070761 Phenotypes for gene: MYRF were set to Pulmonary artery and lung hypoplasia, agonadism, omphalocele, diaphragmatic defects, hypoplastic left heart and scimitar syndrome |
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DDG2P v1.151 | METTL5 |
Rebecca Foulger gene: METTL5 was added gene: METTL5 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: METTL5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: METTL5 were set to 31564433 Phenotypes for gene: METTL5 were set to Autosomal-Recessive Intellectual Disability and Microcephaly |
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DDG2P v1.151 | MESD |
Rebecca Foulger gene: MESD was added gene: MESD was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: MESD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MESD were set to 31564437 Phenotypes for gene: MESD were set to OSTEOGENESIS IMPERFECTA |
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DDG2P v1.151 | MAB21L1 |
Rebecca Foulger gene: MAB21L1 was added gene: MAB21L1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: MAB21L1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MAB21L1 were set to 27103078; 30487245 Phenotypes for gene: MAB21L1 were set to Cerebello-Oculo-Facio-Genital syndrome |
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DDG2P v1.151 | LINGO1 |
Rebecca Foulger gene: LINGO1 was added gene: LINGO1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: LINGO1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LINGO1 were set to 28837161 Phenotypes for gene: LINGO1 were set to LINGO1 related intellectual disability with microcephaly, speech and motor delay |
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DDG2P v1.151 | LAGE3 |
Rebecca Foulger gene: LAGE3 was added gene: LAGE3 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: LAGE3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: LAGE3 were set to 28805828 Phenotypes for gene: LAGE3 were set to GALLOWAY-MOWAT SYNDROME 2, 301006 Mode of pathogenicity for gene: LAGE3 was set to Other - please provide details in the comments |
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DDG2P v1.151 | KIF14 |
Rebecca Foulger gene: KIF14 was added gene: KIF14 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: KIF14 was set to Publications for gene: KIF14 were set to 24128419; 28892560 Phenotypes for gene: KIF14 were set to Severe microcephaly and short stature |
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DDG2P v1.151 | KCNT2 |
Rebecca Foulger gene: KCNT2 was added gene: KCNT2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: KCNT2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KCNT2 were set to 29740868 Phenotypes for gene: KCNT2 were set to Developmental and infantile epileptic encephalopathy Mode of pathogenicity for gene: KCNT2 was set to Other - please provide details in the comments |
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DDG2P v1.151 | KCNA4 |
Rebecca Foulger gene: KCNA4 was added gene: KCNA4 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: KCNA4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KCNA4 were set to KCN4 related abnormal striatum, congenital cataract and intellectual disability. Mode of pathogenicity for gene: KCNA4 was set to Other - please provide details in the comments |
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DDG2P v1.151 | GRIA4 |
Rebecca Foulger gene: GRIA4 was added gene: GRIA4 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: GRIA4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GRIA4 were set to 29220673 Phenotypes for gene: GRIA4 were set to NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES, 617864 Mode of pathogenicity for gene: GRIA4 was set to Other - please provide details in the comments |
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DDG2P v1.151 | DEGS1 |
Rebecca Foulger gene: DEGS1 was added gene: DEGS1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Green Mode of inheritance for gene: DEGS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DEGS1 were set to 31186544; 30620337 Phenotypes for gene: DEGS1 were set to LEUKODYSTROPHY, HYPOMYELINATING, 18, 618404 |
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DDG2P v1.151 | DACT1 |
Rebecca Foulger gene: DACT1 was added gene: DACT1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: DACT1 was set to Publications for gene: DACT1 were set to 28054444; 22610794 Phenotypes for gene: DACT1 were set to Multiple malformations of neural tube, ear, genitourinary and gastrointestinal systems |
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DDG2P v1.151 | CDH2 |
Rebecca Foulger gene: CDH2 was added gene: CDH2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: CDH2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CDH2 were set to 31650526; 31585109 Phenotypes for gene: CDH2 were set to Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects Mode of pathogenicity for gene: CDH2 was set to Other - please provide details in the comments |
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DDG2P v1.151 | APC2 |
Rebecca Foulger gene: APC2 was added gene: APC2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: APC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: APC2 were set to 31585108 Phenotypes for gene: APC2 were set to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay |
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DDG2P v1.150 | NUP107 | Rebecca Foulger Phenotypes for gene: NUP107 were changed from EARLY-CHILDHOOD-ONSET STEROID-RESISTANT NEPHROTIC SYNDROME to GALLOWAY-MOWAT SYNDROME 7, 618348; EARLY-CHILDHOOD-ONSET STEROID-RESISTANT NEPHROTIC SYNDROME | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v1.149 | NUP107 | Rebecca Foulger Publications for gene: NUP107 were set to 26411495 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v1.148 | NUP107 | Rebecca Foulger changed review comment from: Original DDG2P rating: confirmed. ; to: Original DDG2P rating for EARLY-CHILDHOOD-ONSET STEROID-RESISTANT NEPHROTIC SYNDROME: confirmed. DDG2P Mutation consequence: loss of function. DDG2P Allelic requirement: biallelic. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v1.144 | SLC35A2 | Rebecca Foulger Publications for gene: SLC35A2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v1.143 | AMER1 | Rebecca Foulger Mode of inheritance for gene: AMER1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v1.142 | FAM58A | Rebecca Foulger Mode of inheritance for gene: FAM58A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v1.141 | DCX | Rebecca Foulger Mode of inheritance for gene: DCX was changed from X linked: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v1.140 | CASK | Rebecca Foulger Mode of inheritance for gene: CASK was changed from X linked: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v1.139 | STAG2 | Rebecca Foulger Mode of inheritance for gene: STAG2 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v1.138 | SLC35A2 | Rebecca Foulger Mode of inheritance for gene: SLC35A2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v1.131 | CLN6 | Rebecca Foulger commented on gene: CLN6: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for CEROID LIPOFUSCINOSIS, NEURONAL, 6; CEROID LIPOFUSCINOSIS, NEURONAL, KUFS TYPE, ADULT ONSET. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v1.131 | ATP1A3 | Rebecca Foulger commented on gene: ATP1A3: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for RAPID-ONSET DYSTONIA-PARKINSONISM; ALTERNATING HEMIPLEGIA OF CHILDHOOD. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v1.129 | TARS |
Rebecca Foulger gene: TARS was added gene: TARS was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TARS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TARS were set to 31374204 Phenotypes for gene: TARS were set to Non-photosensitive trichothiodystrophy |
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DDG2P v1.129 | FAM149B1 |
Rebecca Foulger gene: FAM149B1 was added gene: FAM149B1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: FAM149B1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FAM149B1 were set to 30905400 Phenotypes for gene: FAM149B1 were set to Ciliopathy-related syndromic intellectual disability |
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DDG2P v1.129 | LEMD2 |
Rebecca Foulger gene: LEMD2 was added gene: LEMD2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: LEMD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: LEMD2 were set to 30905398 Phenotypes for gene: LEMD2 were set to Nuclear Envelopathy with Early Progeroid Appearance Mode of pathogenicity for gene: LEMD2 was set to Other - please provide details in the comments |
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DDG2P v1.129 | DHX37 |
Rebecca Foulger gene: DHX37 was added gene: DHX37 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: DHX37 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DHX37 were set to 31256877 Phenotypes for gene: DHX37 were set to Intellectual Disability and Central Nervous System anomalies Mode of pathogenicity for gene: DHX37 was set to Other - please provide details in the comments |
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DDG2P v1.129 | DHX34 |
Rebecca Foulger gene: DHX34 was added gene: DHX34 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: DHX34 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DHX34 were set to 31256877 Phenotypes for gene: DHX34 were set to INTELLECTUAL DISABILITY 616579 Mode of pathogenicity for gene: DHX34 was set to Other - please provide details in the comments |
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DDG2P v1.129 | DDX54 |
Rebecca Foulger gene: DDX54 was added gene: DDX54 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: DDX54 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DDX54 were set to 31256877 Phenotypes for gene: DDX54 were set to Intellectual Disability and Central Nervous System anomalies Mode of pathogenicity for gene: DDX54 was set to Other - please provide details in the comments |
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DDG2P v1.129 | TAOK1 |
Rebecca Foulger gene: TAOK1 was added gene: TAOK1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Green Mode of inheritance for gene: TAOK1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TAOK1 were set to 31230721 Phenotypes for gene: TAOK1 were set to INTELLECTUAL DISABILITY 616579 |
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DDG2P v1.129 | RINT1 |
Rebecca Foulger gene: RINT1 was added gene: RINT1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: RINT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RINT1 were set to 31204009 Phenotypes for gene: RINT1 were set to Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities |
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DDG2P v1.129 | BRSK2 |
Rebecca Foulger gene: BRSK2 was added gene: BRSK2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: BRSK2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: BRSK2 were set to 30879638 Phenotypes for gene: BRSK2 were set to Neurodevelopmental Disorder |
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DDG2P v1.129 | BNC2 |
Rebecca Foulger gene: BNC2 was added gene: BNC2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Green Mode of inheritance for gene: BNC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: BNC2 were set to 31051115 Phenotypes for gene: BNC2 were set to Congenital Lower Urinary Tract Obstruction |
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DDG2P v1.129 | PIGU |
Rebecca Foulger gene: PIGU was added gene: PIGU was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: PIGU was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PIGU were set to 31353022 Phenotypes for gene: PIGU were set to Intellectual Disability, Central Nervous System anomalies and Scoliosis Mode of pathogenicity for gene: PIGU was set to Other - please provide details in the comments |
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DDG2P v1.129 | ROBO4 |
Rebecca Foulger gene: ROBO4 was added gene: ROBO4 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: ROBO4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ROBO4 were set to 30455415 Phenotypes for gene: ROBO4 were set to Bicuspid Aortic Valve and Aortic Aneurysm 618496 |
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DDG2P v1.129 | HNRNPR |
Rebecca Foulger gene: HNRNPR was added gene: HNRNPR was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Green Mode of inheritance for gene: HNRNPR was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: HNRNPR were set to 31079900 Phenotypes for gene: HNRNPR were set to INTELLECTUAL DISABILITY 616579 |
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DDG2P v1.129 | DLL1 |
Rebecca Foulger gene: DLL1 was added gene: DLL1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: DLL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DLL1 were set to 31353024 Phenotypes for gene: DLL1 were set to INTELLECTUAL DISABILITY 616579 |
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DDG2P v1.129 | B3GAT3 |
Rebecca Foulger gene: B3GAT3 was added gene: B3GAT3 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: B3GAT3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: B3GAT3 were set to 31438591 Phenotypes for gene: B3GAT3 were set to MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS 245600 Mode of pathogenicity for gene: B3GAT3 was set to Other - please provide details in the comments |
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DDG2P v1.129 | MYOCD |
Rebecca Foulger gene: MYOCD was added gene: MYOCD was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: MYOCD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: MYOCD were set to 31513549 Phenotypes for gene: MYOCD were set to Congenital megabladder |
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DDG2P v1.129 | FBXW11 |
Rebecca Foulger gene: FBXW11 was added gene: FBXW11 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: FBXW11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FBXW11 were set to 31402090 Phenotypes for gene: FBXW11 were set to SYNDROMIC INTELLECTUAL DISABILITY 612100 Mode of pathogenicity for gene: FBXW11 was set to Other - please provide details in the comments |
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DDG2P v1.129 | PIGB |
Rebecca Foulger gene: PIGB was added gene: PIGB was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Green Mode of inheritance for gene: PIGB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIGB were set to 31256876 Phenotypes for gene: PIGB were set to Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality |
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DDG2P v1.129 | DHX16 |
Rebecca Foulger gene: DHX16 was added gene: DHX16 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: DHX16 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DHX16 were set to 31256877 Phenotypes for gene: DHX16 were set to Intellectual Disability, Central Nervous System anomalies and Seizures Mode of pathogenicity for gene: DHX16 was set to Other - please provide details in the comments |
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DDG2P v1.129 | DYNC1I2 |
Rebecca Foulger gene: DYNC1I2 was added gene: DYNC1I2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: DYNC1I2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DYNC1I2 were set to 31079899 Phenotypes for gene: DYNC1I2 were set to NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES 618492 |
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DDG2P v1.129 | CDK8 |
Rebecca Foulger gene: CDK8 was added gene: CDK8 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Green Mode of inheritance for gene: CDK8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CDK8 were set to 30905399 Phenotypes for gene: CDK8 were set to SYNDROMIC INTELLECTUAL DISABILITY 612100 Mode of pathogenicity for gene: CDK8 was set to Other - please provide details in the comments |
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DDG2P v1.129 | KCNN3 |
Rebecca Foulger gene: KCNN3 was added gene: KCNN3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: KCNN3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KCNN3 were set to 31155282 Phenotypes for gene: KCNN3 were set to ZIMMERMANN-LABAND SYNDROME Mode of pathogenicity for gene: KCNN3 was set to Other - please provide details in the comments |
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DDG2P v1.129 | POU3F3 |
Rebecca Foulger gene: POU3F3 was added gene: POU3F3 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Green Mode of inheritance for gene: POU3F3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: POU3F3 were set to 31303265 Phenotypes for gene: POU3F3 were set to INTELLECTUAL DISABILITY 616579 Mode of pathogenicity for gene: POU3F3 was set to Other - please provide details in the comments |
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DDG2P v1.129 | SMARCD1 |
Rebecca Foulger gene: SMARCD1 was added gene: SMARCD1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SMARCD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SMARCD1 were set to 30879640 Phenotypes for gene: SMARCD1 were set to SYNDROMIC INTELLECTUAL DISABILITY 612100 Mode of pathogenicity for gene: SMARCD1 was set to Other - please provide details in the comments |
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DDG2P v1.129 | AP2M1 |
Rebecca Foulger gene: AP2M1 was added gene: AP2M1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: AP2M1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: AP2M1 were set to 31104773 Phenotypes for gene: AP2M1 were set to Developmental and Epileptic Encephalopathy Mode of pathogenicity for gene: AP2M1 was set to Other - please provide details in the comments |
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DDG2P v1.129 | CACNA1B |
Rebecca Foulger gene: CACNA1B was added gene: CACNA1B was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: CACNA1B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CACNA1B were set to 30982612 Phenotypes for gene: CACNA1B were set to NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND NONEPILEPTIC HYPERKINETIC MOVEMENTS 618497 |
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DDG2P v1.129 | RRAS2 |
Rebecca Foulger gene: RRAS2 was added gene: RRAS2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Green Mode of inheritance for gene: RRAS2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RRAS2 were set to 31130282; 31130285; 24705357 Phenotypes for gene: RRAS2 were set to Noonan syndrome Mode of pathogenicity for gene: RRAS2 was set to Other - please provide details in the comments |
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DDG2P v1.129 | WDR37 |
Rebecca Foulger gene: WDR37 was added gene: WDR37 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Green Mode of inheritance for gene: WDR37 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: WDR37 were set to 31327508; 31327510 Phenotypes for gene: WDR37 were set to SYNDROMIC INTELLECTUAL DISABILITY 612100 Mode of pathogenicity for gene: WDR37 was set to Other - please provide details in the comments |
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DDG2P v1.129 | POLA1 |
Rebecca Foulger gene: POLA1 was added gene: POLA1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Green Mode of inheritance for gene: POLA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: POLA1 were set to 31006512 Phenotypes for gene: POLA1 were set to VAN ESCH-O'DRISCOLL SYNDROME 301030 |
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DDG2P v1.129 | GPC4 |
Rebecca Foulger gene: GPC4 was added gene: GPC4 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Green Mode of inheritance for gene: GPC4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: GPC4 were set to 30982611 Phenotypes for gene: GPC4 were set to KEIPERT SYNDROME 301026 |
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DDG2P v1.129 | VAMP2 |
Rebecca Foulger gene: VAMP2 was added gene: VAMP2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: VAMP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: VAMP2 were set to 30929742 Phenotypes for gene: VAMP2 were set to INTELLECTUAL DISABILITY 616579 Mode of pathogenicity for gene: VAMP2 was set to Other - please provide details in the comments |
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DDG2P v1.129 | POLR2A |
Rebecca Foulger gene: POLR2A was added gene: POLR2A was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Green Mode of inheritance for gene: POLR2A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: POLR2A were set to 31353023 Phenotypes for gene: POLR2A were set to SYNDROMIC INTELLECTUAL DISABILITY 612100 Mode of pathogenicity for gene: POLR2A was set to Other - please provide details in the comments |
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DDG2P v1.129 | CSF1R |
Rebecca Foulger gene: CSF1R was added gene: CSF1R was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Green Mode of inheritance for gene: CSF1R was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CSF1R were set to 30982608; 30982609 Phenotypes for gene: CSF1R were set to BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS 618476 |
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DDG2P v1.129 | GOT2 |
Rebecca Foulger gene: GOT2 was added gene: GOT2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: GOT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GOT2 were set to 31422819 Phenotypes for gene: GOT2 were set to Malate-Aspartate Shuttle-Related Encephalopathy Mode of pathogenicity for gene: GOT2 was set to Other - please provide details in the comments |
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DDG2P v1.129 | NUP214 |
Rebecca Foulger gene: NUP214 was added gene: NUP214 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: NUP214 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NUP214 were set to 31178128 Phenotypes for gene: NUP214 were set to Acute Febrile Encephalopathy 618426 |
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DDG2P v1.124 | KDM5B | Rebecca Foulger Publications for gene: KDM5B were set to 24307393; 28720891 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v1.118 | ACTL6B | Rebecca Foulger Publications for gene: ACTL6B were set to 28867141 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v1.114 | KMT2E | Rebecca Foulger Publications for gene: KMT2E were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v1.81 | CYP27A1 |
Rebecca Foulger gene: CYP27A1 was added gene: CYP27A1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: CYP27A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CYP27A1 were set to 2019602; 16278884 Phenotypes for gene: CYP27A1 were set to Cerebrotendinous xanthomatosis |
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DDG2P v1.81 | ANAPC1 |
Rebecca Foulger gene: ANAPC1 was added gene: ANAPC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ANAPC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ANAPC1 were set to 31303264 Phenotypes for gene: ANAPC1 were set to Rothmund-Thomson Syndrome Type 1 |
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DDG2P v1.80 | SETD1B | Rebecca Foulger reviewed gene: SETD1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v1.79 | SETD1B |
Rebecca Foulger gene: SETD1B was added gene: SETD1B was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: SETD1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SETD1B were set to 29322246 Phenotypes for gene: SETD1B were set to SETD1B associated intellectual disability, epilepsy and autism |
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DDG2P v1.78 | MYPN | Rebecca Foulger changed review comment from: Original DDG2P rating: child IF. DD-G2P rating for Childhood-Onset, Slowly Progressive Nemaline Myopathy: child IF.; to: Original DDG2P rating for Childhood-Onset, Slowly Progressive Nemaline Myopathy: child IF. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v1.75 | PCDH19 | Rebecca Foulger Mode of inheritance for gene: PCDH19 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v1.74 | PCDH19 | Rebecca Foulger Mode of inheritance for gene: PCDH19 was changed from x-linked over-dominance to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v1.73 | MN1 |
Rebecca Foulger gene: MN1 was added gene: MN1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: MN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MN1 were set to 21242494 Phenotypes for gene: MN1 were set to MN1 C-terminal truncation syndrome |
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DDG2P v1.73 | EIF3F |
Rebecca Foulger gene: EIF3F was added gene: EIF3F was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: EIF3F was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EIF3F were set to 30409806 Phenotypes for gene: EIF3F were set to EIF3F related developmental disorder |
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DDG2P v1.73 | BRD4 |
Rebecca Foulger gene: BRD4 was added gene: BRD4 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: BRD4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: BRD4 were set to 29379197; 30302754 Phenotypes for gene: BRD4 were set to CORNELIA DE LANGE-LIKE SYNDROME |
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DDG2P v1.70 | CHD3 | Rebecca Foulger Publications for gene: CHD3 were set to 29463886 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v1.66 | FMR1 | Rebecca Foulger Mode of inheritance for gene: FMR1 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v1.65 | EFNB1 | Rebecca Foulger Mode of inheritance for gene: EFNB1 was changed from x-linked over-dominance to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v1.49 | FLNA | Rebecca Foulger Mode of inheritance for gene: FLNA was changed from X linked: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v1.48 | IKBKG | Rebecca Foulger Mode of inheritance for gene: IKBKG was changed from X linked: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v1.47 | NSDHL | Rebecca Foulger Mode of inheritance for gene: NSDHL was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v1.46 | PDHA1 | Rebecca Foulger Mode of inheritance for gene: PDHA1 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v1.45 | KDM3B |
Rebecca Foulger gene: KDM3B was added gene: KDM3B was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: KDM3B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KDM3B were set to 30929739 Phenotypes for gene: KDM3B were set to KDM3B-related intellectual disability, short stature and facial dysmorphism |
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DDG2P v1.42 | CNOT1 |
Rebecca Foulger gene: CNOT1 was added gene: CNOT1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: CNOT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CNOT1 were set to 31006510; 31006513 Phenotypes for gene: CNOT1 were set to pancreatic agenesis and holoprosencephaly syndrome Mode of pathogenicity for gene: CNOT1 was set to Other - please provide details in the comments |
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DDG2P v1.42 | HNRNPK |
Rebecca Foulger gene: HNRNPK was added gene: HNRNPK was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Green Mode of inheritance for gene: HNRNPK was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: HNRNPK were set to 29904177; 30998304 Phenotypes for gene: HNRNPK were set to Au-Kline Syndrome |
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DDG2P v1.41 | SIM1 | Rebecca Foulger Added comment: Comment on mode of inheritance: Although the DD-G2P Disease confidence rating is confirmed for 'Severe obesity with neurobehavioral features', the MOI was missing in Gene2Phenotype at the time when SIM1 was added to the DDG2P panel. Set the inheritance to 'both monoallelic and biallelic' to match the AR,AD inheritance in OMIM for Obesity, severe (MIM:601665). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v1.40 | SPTBN2 | Rebecca Foulger Added comment: Comment on mode of inheritance: Multiple MOIs for different disorders in DD-Gene2Phenotype: biallelic for SCA14, and monoallelic for Infantile ataxia with oculomotor and pyramidal signs. Set inheritance to 'biallelic' only because biallelic 'SCA14' disorder is confirmed, and monoallelic 'Infantile ataxia with oculomotor and pyramidal signs' disorder is probable. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v1.39 | C11orf70 | Rebecca Foulger Added comment: Comment on mode of inheritance: Although the DD-G2P Disease confidence rating is 'confirmed' for PRIMARY CILIARY DYSKINESIA, the MOI was missing in Gene2Phenotype at the time when C11orf70 (CFAP300) was added to the DDG2P panel. Therefore, set inheritance to 'biallelic' to match AR inheritance recorded in OMIM for Ciliary dyskinesia, primary, 38, 618063. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v1.37 | ZMIZ1 |
Rebecca Foulger gene: ZMIZ1 was added gene: ZMIZ1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: ZMIZ1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ZMIZ1 were set to 30639322 Phenotypes for gene: ZMIZ1 were set to Syndromic Neurodevelopmental Disorder |
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DDG2P v1.37 | WASF1 |
Rebecca Foulger gene: WASF1 was added gene: WASF1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: WASF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: WASF1 were set to 29961568 Phenotypes for gene: WASF1 were set to Intellectual Disability with Seizures |
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DDG2P v1.37 | VPS53 |
Rebecca Foulger gene: VPS53 was added gene: VPS53 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Green Mode of inheritance for gene: VPS53 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VPS53 were set to 30100179; 24577744 Phenotypes for gene: VPS53 were set to Progressive cerebella-cerebral atrophy type 2 |
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DDG2P v1.37 | TRRAP |
Rebecca Foulger gene: TRRAP was added gene: TRRAP was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: TRRAP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TRRAP were set to 30827496 Phenotypes for gene: TRRAP were set to Autism and Syndromic Intellectual Disability Mode of pathogenicity for gene: TRRAP was set to Other - please provide details in the comments |
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DDG2P v1.37 | TRPV6 |
Rebecca Foulger gene: TRPV6 was added gene: TRPV6 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: TRPV6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRPV6 were set to 29861107 Phenotypes for gene: TRPV6 were set to Transient Neonatal Hyperparathyroidism |
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DDG2P v1.37 | TOP3A |
Rebecca Foulger gene: TOP3A was added gene: TOP3A was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Green Mode of inheritance for gene: TOP3A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TOP3A were set to 30193137 Phenotypes for gene: TOP3A were set to Bloom Syndrome like Disorder |
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DDG2P v1.37 | TMEM94 |
Rebecca Foulger gene: TMEM94 was added gene: TMEM94 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: TMEM94 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM94 were set to 30526868 Phenotypes for gene: TMEM94 were set to Neurodevelopmental Delay Congenital Heart Defects and Distinct Facial Dysmorphism |
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DDG2P v1.37 | SUZ12 |
Rebecca Foulger gene: SUZ12 was added gene: SUZ12 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Green Mode of inheritance for gene: SUZ12 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SUZ12 were set to 30019515; 28229514 Phenotypes for gene: SUZ12 were set to Weaver-like overgrowth syndrome |
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DDG2P v1.37 | SPTBN2 |
Rebecca Foulger gene: SPTBN2 was added gene: SPTBN2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Green Mode of inheritance for gene: SPTBN2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPTBN2 were set to 25981959; 22914369; 29795474 Phenotypes for gene: SPTBN2 were set to SCA14; Infantile ataxia with oculomotor and pyramidal signs |
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DDG2P v1.37 | SOX4 |
Rebecca Foulger gene: SOX4 was added gene: SOX4 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: SOX4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SOX4 were set to 30661772 Phenotypes for gene: SOX4 were set to Neurodevelopmental Disease Associated with Mild Dysmorphism Mode of pathogenicity for gene: SOX4 was set to Other - please provide details in the comments |
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DDG2P v1.37 | SMARCC2 |
Rebecca Foulger gene: SMARCC2 was added gene: SMARCC2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: SMARCC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SMARCC2 were set to 30580808 Phenotypes for gene: SMARCC2 were set to Syndromic Intellectual Disability and Developmental Delay |
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DDG2P v1.37 | SIM1 |
Rebecca Foulger gene: SIM1 was added gene: SIM1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Green Mode of inheritance for gene: SIM1 was set to Publications for gene: SIM1 were set to 28472148; 23778136; 23778139 Phenotypes for gene: SIM1 were set to Severe obesity with neurobehavioral features |
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DDG2P v1.37 | SEPSECS |
Rebecca Foulger gene: SEPSECS was added gene: SEPSECS was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Green Mode of inheritance for gene: SEPSECS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SEPSECS were set to 29464431; 26805434; 26888482 Phenotypes for gene: SEPSECS were set to Pontocerebellar hypoplasia type 2D |
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DDG2P v1.37 | RNF13 |
Rebecca Foulger gene: RNF13 was added gene: RNF13 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: RNF13 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RNF13 were set to 30595371 Phenotypes for gene: RNF13 were set to Congenital Microcephaly Epileptic Encephalopathy Blindness and Failure to Thrive Mode of pathogenicity for gene: RNF13 was set to Other - please provide details in the comments |
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DDG2P v1.37 | RMI1 |
Rebecca Foulger gene: RMI1 was added gene: RMI1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: RMI1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RMI1 were set to 30193137 Phenotypes for gene: RMI1 were set to Bloom Syndrome like Disorder |
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DDG2P v1.37 | RHOBTB2 |
Rebecca Foulger gene: RHOBTB2 was added gene: RHOBTB2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: RHOBTB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RHOBTB2 were set to 29276004 Phenotypes for gene: RHOBTB2 were set to Developmental and Epileptic Encephalopathy Mode of pathogenicity for gene: RHOBTB2 was set to Other - please provide details in the comments |
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DDG2P v1.37 | PUS7 |
Rebecca Foulger gene: PUS7 was added gene: PUS7 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: PUS7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PUS7 were set to 30526862 Phenotypes for gene: PUS7 were set to Intellectual Disability with Speech Delay Microcephaly Short Stature and Aggressive Behavior |
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DDG2P v1.37 | PRR12 |
Rebecca Foulger gene: PRR12 was added gene: PRR12 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: PRR12 was set to Publications for gene: PRR12 were set to 29556724; 26163108 Phenotypes for gene: PRR12 were set to Intellectual disability and iris abnormalities |
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DDG2P v1.37 | PPP2CA |
Rebecca Foulger gene: PPP2CA was added gene: PPP2CA was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: PPP2CA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PPP2CA were set to 30595372 Phenotypes for gene: PPP2CA were set to Syndromic Intellectual Disability Resembling Other PP2A Related Neurodevelopmental Disorders |
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DDG2P v1.37 | PMPCB |
Rebecca Foulger gene: PMPCB was added gene: PMPCB was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: PMPCB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PMPCB were set to 29576218 Phenotypes for gene: PMPCB were set to Neurodegeneration in Early Childhood Mode of pathogenicity for gene: PMPCB was set to Other - please provide details in the comments |
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DDG2P v1.37 | PIGS |
Rebecca Foulger gene: PIGS was added gene: PIGS was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: PIGS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIGS were set to 30269814 Phenotypes for gene: PIGS were set to Neurological Syndrome Fetal Akinesia /Epileptic Encephalopathy |
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DDG2P v1.37 | PAK1 |
Rebecca Foulger gene: PAK1 was added gene: PAK1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: PAK1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PAK1 were set to 30290153 Phenotypes for gene: PAK1 were set to Neurodevelopmental Disorder Mode of pathogenicity for gene: PAK1 was set to Other - please provide details in the comments |
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DDG2P v1.37 | NPR3 |
Rebecca Foulger gene: NPR3 was added gene: NPR3 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: NPR3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NPR3 were set to 30032985 Phenotypes for gene: NPR3 were set to Enhanced Growth and Connective Tissue Abnormalities |
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DDG2P v1.37 | NDUFB8 |
Rebecca Foulger gene: NDUFB8 was added gene: NDUFB8 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: NDUFB8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFB8 were set to 29429571 Phenotypes for gene: NDUFB8 were set to MITOCHONDRIAL COMPLEX I DEFICIENCY, 252010 |
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DDG2P v1.37 | NDUFA6 |
Rebecca Foulger gene: NDUFA6 was added gene: NDUFA6 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: NDUFA6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFA6 were set to 30245030 Phenotypes for gene: NDUFA6 were set to Early Onset Isolated Mitochondrial Complex I Deficiency |
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DDG2P v1.37 | NCAPG2 |
Rebecca Foulger gene: NCAPG2 was added gene: NCAPG2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: NCAPG2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NCAPG2 were set to 30609410 Phenotypes for gene: NCAPG2 were set to Severe Neurodevelopmental Syndrome Mode of pathogenicity for gene: NCAPG2 was set to Other - please provide details in the comments |
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DDG2P v1.37 | NBEA |
Rebecca Foulger gene: NBEA was added gene: NBEA was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: NBEA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NBEA were set to 30269351 Phenotypes for gene: NBEA were set to NBEA Neurodevelopment disorder with seizures |
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DDG2P v1.37 | MYF5 |
Rebecca Foulger gene: MYF5 was added gene: MYF5 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: MYF5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYF5 were set to 29887215 Phenotypes for gene: MYF5 were set to External Ophthalmoplegia Rib and Vertebral Anomalies |
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DDG2P v1.37 | MRPS2 |
Rebecca Foulger gene: MRPS2 was added gene: MRPS2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: MRPS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MRPS2 were set to 29576219 Phenotypes for gene: MRPS2 were set to Sensorineural Hearing Loss Hypoglycemia and Multiple OXPHOS Complex Deficiencies Mode of pathogenicity for gene: MRPS2 was set to Other - please provide details in the comments |
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DDG2P v1.37 | MED13 |
Rebecca Foulger gene: MED13 was added gene: MED13 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: MED13 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MED13 were set to 29740699 Phenotypes for gene: MED13 were set to MED13 - Neurodevelopment disorder |
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DDG2P v1.37 | MAPK8IP3 |
Rebecca Foulger gene: MAPK8IP3 was added gene: MAPK8IP3 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: MAPK8IP3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MAPK8IP3 were set to 30612693 Phenotypes for gene: MAPK8IP3 were set to Intellectual Disability with Variable Brain Anomalies |
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DDG2P v1.37 | MACF1 |
Rebecca Foulger gene: MACF1 was added gene: MACF1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: MACF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MACF1 were set to 30471716 Phenotypes for gene: MACF1 were set to Defects in Neuronal Migration and Axon Guidance Mode of pathogenicity for gene: MACF1 was set to Other - please provide details in the comments |
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DDG2P v1.37 | LNPK |
Rebecca Foulger gene: LNPK was added gene: LNPK was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: LNPK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LNPK were set to 30032983 Phenotypes for gene: LNPK were set to Recessive Neurodevelopmental Syndrome |
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DDG2P v1.37 | IRF2BPL |
Rebecca Foulger gene: IRF2BPL was added gene: IRF2BPL was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: IRF2BPL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: IRF2BPL were set to 30193138 Phenotypes for gene: IRF2BPL were set to Neurological Phenotypes |
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DDG2P v1.37 | GAS2L2 |
Rebecca Foulger gene: GAS2L2 was added gene: GAS2L2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: GAS2L2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GAS2L2 were set to 30665704 Phenotypes for gene: GAS2L2 were set to Impaired Cilia Orientation and Mucociliary Clearance |
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DDG2P v1.37 | FUT8 |
Rebecca Foulger gene: FUT8 was added gene: FUT8 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: FUT8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FUT8 were set to 29304374 Phenotypes for gene: FUT8 were set to Congenital Disorder of Glycosylation with Defective Fucosylation |
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DDG2P v1.37 | FUK |
Rebecca Foulger gene: FUK was added gene: FUK was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: FUK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FUK were set to 30503518 Phenotypes for gene: FUK were set to CONGENITAL DISORDER OF GLYCOSYLATION Mode of pathogenicity for gene: FUK was set to Other - please provide details in the comments |
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DDG2P v1.37 | FDFT1 |
Rebecca Foulger gene: FDFT1 was added gene: FDFT1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: FDFT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FDFT1 were set to 29909962 Phenotypes for gene: FDFT1 were set to Defect in Cholesterol Biosynthesis |
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DDG2P v1.37 | EXTL3 |
Rebecca Foulger gene: EXTL3 was added gene: EXTL3 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: EXTL3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EXTL3 were set to 28132690 Phenotypes for gene: EXTL3 were set to Neuro immuno skeletal Dysplasia Syndrome Mode of pathogenicity for gene: EXTL3 was set to Other - please provide details in the comments |
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DDG2P v1.37 | EXOSC9 |
Rebecca Foulger gene: EXOSC9 was added gene: EXOSC9 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: EXOSC9 was set to Publications for gene: EXOSC9 were set to 29727687 Phenotypes for gene: EXOSC9 were set to Cerebellar Atrophy with Spinal Motor Neuronopathy |
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DDG2P v1.37 | EPRS |
Rebecca Foulger gene: EPRS was added gene: EPRS was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: EPRS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EPRS were set to 29576217 Phenotypes for gene: EPRS were set to Hypomyelinating Leukodystrophy |
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DDG2P v1.37 | DNAH9 |
Rebecca Foulger gene: DNAH9 was added gene: DNAH9 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Green Mode of inheritance for gene: DNAH9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNAH9 were set to 30471717; 30471718 Phenotypes for gene: DNAH9 were set to Motile Cilia Defects and Situs Inversus |
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DDG2P v1.37 | DHPS |
Rebecca Foulger gene: DHPS was added gene: DHPS was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: DHPS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DHPS were set to 30661771 Phenotypes for gene: DHPS were set to Neurodevelopmental Disorder of Hypusination Mode of pathogenicity for gene: DHPS was set to Other - please provide details in the comments |
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DDG2P v1.37 | CNPY3 |
Rebecca Foulger gene: CNPY3 was added gene: CNPY3 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: CNPY3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CNPY3 were set to 29394991 Phenotypes for gene: CNPY3 were set to EARLY ONSET EPILEPTIC ENCEPHALOPATHY |
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DDG2P v1.37 | C11orf70 |
Rebecca Foulger gene: C11orf70 was added gene: C11orf70 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Green Mode of inheritance for gene: C11orf70 was set to Publications for gene: C11orf70 were set to 29727693; 29727692 Phenotypes for gene: C11orf70 were set to PRIMARY CILIARY DYSKINESIA |
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DDG2P v1.37 | CCNK |
Rebecca Foulger gene: CCNK was added gene: CCNK was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: CCNK was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CCNK were set to 30122539 Phenotypes for gene: CCNK were set to Syndromic Neurodevelopmental Disorder with Distinctive Facial Dysmorphism |
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DDG2P v1.37 | CCDC47 |
Rebecca Foulger gene: CCDC47 was added gene: CCDC47 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: CCDC47 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CCDC47 were set to 30401460 Phenotypes for gene: CCDC47 were set to Woolly Hair Liver Dysfunction Dysmorphic Features and Global Developmental Delay |
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DDG2P v1.37 | CARS |
Rebecca Foulger gene: CARS was added gene: CARS was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: CARS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CARS were set to 30824121 Phenotypes for gene: CARS were set to Microcephaly Developmental Delay and Brittle Hair and Nails |
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DDG2P v1.37 | ATP6V1E1 |
Rebecca Foulger gene: ATP6V1E1 was added gene: ATP6V1E1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: ATP6V1E1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP6V1E1 were set to 28065471 Phenotypes for gene: ATP6V1E1 were set to Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal Recessive Cutis Laxa Mode of pathogenicity for gene: ATP6V1E1 was set to Other - please provide details in the comments |
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DDG2P v1.37 | ATP6V1A |
Rebecca Foulger gene: ATP6V1A was added gene: ATP6V1A was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: ATP6V1A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP6V1A were set to 28065471 Phenotypes for gene: ATP6V1A were set to Autosomal Recessive Cutis Laxa Mode of pathogenicity for gene: ATP6V1A was set to Other - please provide details in the comments |
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DDG2P v1.37 | ATP5D |
Rebecca Foulger gene: ATP5D was added gene: ATP5D was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: ATP5D was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP5D were set to 29478781 Phenotypes for gene: ATP5D were set to ATP5F1D metabolic disorder Mode of pathogenicity for gene: ATP5D was set to Other - please provide details in the comments |
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DDG2P v1.37 | ATP1A1 |
Rebecca Foulger gene: ATP1A1 was added gene: ATP1A1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: ATP1A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ATP1A1 were set to 30388404 Phenotypes for gene: ATP1A1 were set to Renal Hypomagnesemia Refractory Seizures and Intellectual Disability Mode of pathogenicity for gene: ATP1A1 was set to Other - please provide details in the comments |
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DDG2P v1.37 | ATN1 |
Rebecca Foulger gene: ATN1 was added gene: ATN1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: ATN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ATN1 were set to 30827498 Phenotypes for gene: ATN1 were set to congenital hypotonia, epilepsy, developmental delay, digit abnormalities Mode of pathogenicity for gene: ATN1 was set to Other - please provide details in the comments |
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DDG2P v1.37 | ARL3 |
Rebecca Foulger gene: ARL3 was added gene: ARL3 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: ARL3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARL3 were set to 30269812 Phenotypes for gene: ARL3 were set to JOUBERT SYNDROME, 614615 Mode of pathogenicity for gene: ARL3 was set to Other - please provide details in the comments |
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DDG2P v1.37 | ADPRHL2 |
Rebecca Foulger gene: ADPRHL2 was added gene: ADPRHL2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: ADPRHL2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADPRHL2 were set to 30388405; 30401461 Phenotypes for gene: ADPRHL2 were set to Degenerative Pediatric Stress Induced Epileptic Ataxia Syndrome; Neurodegeneration with Developmental Delay Ataxia and Axonal Neuropathy |
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DDG2P v1.37 | ADAMTS9 |
Rebecca Foulger gene: ADAMTS9 was added gene: ADAMTS9 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: ADAMTS9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADAMTS9 were set to 30609407 Phenotypes for gene: ADAMTS9 were set to Nephronophthisis Related Ciliopathy Mode of pathogenicity for gene: ADAMTS9 was set to Other - please provide details in the comments |
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DDG2P v1.35 | XYLT1 | Rebecca Foulger Publications for gene: XYLT1 were set to 24581741 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v1.33 | TRAF7 | Rebecca Foulger Publications for gene: TRAF7 were set to 29961569 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v1.32 | POLR3A | Rebecca Foulger Publications for gene: POLR3A were set to 21855841; 17159124; 22036171; 12605447 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v1.28 | PACS2 | Rebecca Foulger Publications for gene: PACS2 were set to 28867141 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v1.24 | MYH3 | Rebecca Foulger Publications for gene: MYH3 were set to 16642020 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v1.21 | LRRC56 | Rebecca Foulger Publications for gene: LRRC56 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v1.16 | DSTYK | Rebecca Foulger Publications for gene: DSTYK were set to 23862974 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v1.13 | CLCN4 | Rebecca Foulger Mode of inheritance for gene: CLCN4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v1.11 | TTN | Rebecca Foulger Publications for gene: TTN were set to 17444505; 29575618; 28040389 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v1.10 | TTN | Rebecca Foulger commented on gene: TTN: PMID:29691892 identify 30 patients from 27 families with 2 pathogenic TTN variants in trans. All patients had prenatal or early onset hypotonia and/or congenital contractures. Cardiac involvement was present in 46% of patients. The authors state that: to date, 16 patients from 12 families with a recessive prenatal or infant onset form of titinopathy have been reported. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v1.10 | TTN | Rebecca Foulger Publications for gene: TTN were set to 17444505 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v1.7 | FARS2 | Rebecca Foulger Added comment: Comment on mode of inheritance: Set mode of inheritance to 'biallelic' to match OMIM and other PanelApp panels (no MOI listed in DD-G2P at the time of curation). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v1.5 | FARS2 |
Rebecca Foulger gene: FARS2 was added gene: FARS2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Green Mode of inheritance for gene: FARS2 was set to Publications for gene: FARS2 were set to 29326872; 28043061; 27095821; 29126765; 27549011 Phenotypes for gene: FARS2 were set to Neurometabolic disorder due to FARS2 deficiency |
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DDG2P v1.5 | KCNJ8 |
Rebecca Foulger gene: KCNJ8 was added gene: KCNJ8 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: KCNJ8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KCNJ8 were set to 24176758; 24700710; 25275207 Phenotypes for gene: KCNJ8 were set to Cantu syndrome Mode of pathogenicity for gene: KCNJ8 was set to Other - please provide details in the comments |
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DDG2P v1.4 | EHMT1 | Rebecca Foulger Publications for gene: EHMT1 were set to 19264732; 16826528 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v1.2 | STAG2 | Rebecca Foulger Mode of inheritance for gene: STAG2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.95 | MYPN | Rebecca Foulger commented on gene: MYPN: Kept rating as Amber to reflect DDG2P Disease confidence of 'child IF' for Childhood-Onset, Slowly Progressive Nemaline Myopathy. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.95 | CLN6 | Rebecca Foulger commented on gene: CLN6: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for CEROID LIPOFUSCINOSIS, NEURONAL, 6;CEROID LIPOFUSCINOSIS, NEURONAL, KUFS TYPE, ADULT ONSET. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.95 | ATP1A3 | Rebecca Foulger commented on gene: ATP1A3: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for RAPID-ONSET DYSTONIA-PARKINSONISM;ALTERNATING HEMIPLEGIA OF CHILDHOOD. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.93 | UFC1 | Rebecca Foulger Added comment: Comment on mode of inheritance: No MOI is given in DDG2P for UFC1 Disease: Severe early-onset encephalopathy with progressive microcephaly. Set MOI to 'biallelic' to match OMIM 'Neurodevelopmental disorder with spasticity and poor growth, 618076'. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.92 | SAMD9 | Rebecca Foulger Added comment: Comment on mode of inheritance: No MOI is given for DDG2P SAMD9 Disease: MIRAGE - myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, enteropathy. Have set MOI to 'monoallelic' to match OMIM (MIRAGE syndrome, 617053). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.91 | RPL11 | Rebecca Foulger Added comment: Comment on mode of inheritance: No MOI is given for RPL11 Disease: Diamond-Blackfan anemia with cleft palate and abnormal thumbs in DDG2P but have set MOI to 'Monoallelic' to match OMIM (MIM:612562) and other panels. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.90 | EDAR | Rebecca Foulger Added comment: Comment on mode of inheritance: At the time of curation, no MOI is listed in DD-G2P for EDAR. Note that in OMIM, Ectodermal dysplasia is associated with both recessive (MIM:224900) and dominant (MIM:129490) inheritance. However, have set MOI to 'biallelic' to match the current DD-G2P disorder name (Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.55 | TWIST2 | Rebecca Foulger edited their review of gene: TWIST2: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; probable). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for ABLEPHARON MACROSTOMIA SYNDROME. MOI is monoallelic for ABLEPHARON MACROSTOMIA SYNDROME and biallelic for SETLEIS SYNDROME; changed MOI from 'both monoallelic and biallelic' to monoallelic, to match confirmed disorder only.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.52 | PHACTR1 |
Rebecca Foulger gene: PHACTR1 was added gene: PHACTR1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: PHACTR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PHACTR1 were set to 23033978; 30256902 Phenotypes for gene: PHACTR1 were set to PHACTR1-associated neurodevelopment disorder Mode of pathogenicity for gene: PHACTR1 was set to Other - please provide details in the comments |
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DDG2P v0.48 | CDKN1C | Rebecca Foulger Publications for gene: CDKN1C were set to 22634751; 24624461; 28508599 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.41 | NAXD |
Rebecca Foulger gene: NAXD was added gene: NAXD was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: NAXD was set to Publications for gene: NAXD were set to 30576410 Phenotypes for gene: NAXD were set to Neurodegenerative disorder exacerbated by febrile illnesses |
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DDG2P v0.40 | CHD3 | Rebecca Foulger Publications for gene: CHD3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.39 | CDKN1C | Rebecca Foulger Publications for gene: CDKN1C were set to 22634751 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.38 | SLC25A4 | Rebecca Foulger Publications for gene: SLC25A4 were set to 27693233 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.37 | TELO2 | Rebecca Foulger Publications for gene: TELO2 were set to 27132593 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.36 | RAB18 | Rebecca Foulger Publications for gene: RAB18 were set to 21473985 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.35 | RAB3GAP1 | Rebecca Foulger Publications for gene: RAB3GAP1 were set to 15696165; 10465117; 20512159; 15216543 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.34 | AKT1 | Rebecca Foulger Publications for gene: AKT1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.33 | MECP2 | Rebecca Foulger Publications for gene: MECP2 were set to 11402105; 11238684 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.32 | DNMT3A | Rebecca Foulger Publications for gene: DNMT3A were set to 24614070 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.31 | BCAP31 | Rebecca Foulger Publications for gene: BCAP31 were set to 24011989 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.30 | ARID1B | Rebecca Foulger Publications for gene: ARID1B were set to 22426309; 22426308; 22405089 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.28 | SMARCB1 | Rebecca Foulger Publications for gene: SMARCB1 were set to 9671307; 10739763; 10521299 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.27 | TRIO | Rebecca Foulger Publications for gene: TRIO were set to 26235986 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.25 | MAF | Rebecca Foulger Phenotypes for gene: MAF were changed from CATARACT, DEAFNESS, INTELLECTUAL DISABILITY, SEIZURES, AND A DOWN SYNDROME-LIKE FACIES; CATARACT PULVERULENT JUVENILE-ONSET MAF-RELATED 610202; CATARACT CONGENITAL CERULEAN TYPE 4 610202 to Ayme-Gripp syndrome: CATARACT, DEAFNESS, INTELLECTUAL DISABILITY, SEIZURES, AND A DOWN SYNDROME-LIKE FACIES; CATARACT PULVERULENT JUVENILE-ONSET MAF-RELATED 610202; CATARACT CONGENITAL CERULEAN TYPE 4 610202 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.18 | SAMD9 |
Rebecca Foulger gene: SAMD9 was added gene: SAMD9 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SAMD9 was set to Publications for gene: SAMD9 were set to 28346228; 27182967 Phenotypes for gene: SAMD9 were set to MIRAGE - myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, enteropathy |
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DDG2P v0.18 | LRRC56 |
Rebecca Foulger gene: LRRC56 was added gene: LRRC56 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: LRRC56 was set to Phenotypes for gene: LRRC56 were set to Mucociliary Clearance and Laterality Defects |
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DDG2P v0.18 | CACNA1E |
Rebecca Foulger gene: CACNA1E was added gene: CACNA1E was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: CACNA1E was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CACNA1E were set to 30343943 Phenotypes for gene: CACNA1E were set to Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesia Mode of pathogenicity for gene: CACNA1E was set to Other - please provide details in the comments |
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DDG2P v0.16 | KLHL7 | Rebecca Foulger Phenotypes for gene: KLHL7 were changed from Cold-induced sweating syndrome type 1 (CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa to Cold-induced sweating syndrome type 1 (CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa; Crisponi/CISS1-like phenotype associated with early-onset retinitis pigmentosa | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.15 | SLC25A4 | Rebecca Foulger Phenotypes for gene: SLC25A4 were changed from Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number to Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number; Fontaine progeroid syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.9 | SLC25A4 | Rebecca Foulger edited their review of gene: SLC25A4: Added comment: New gene:disorder association added to DDG2P on 08/11/2018: Fontaine progeroid syndrome. Rated probable in DDG2P for both Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number, and Fontaine progeroid syndrome. DG2P mode of pathogenicity for both Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number, and Fontaine progeroid syndrome: all missense/in frame.; Changed publications: 30329211; Changed phenotypes: Fontaine progeroid syndrome; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.9 | KLHL7 | Rebecca Foulger edited their review of gene: KLHL7: Added comment: New gene:disorder association added to DDG2P on 08/11/2018: Crisponi/CISS1-like phenotype associated with early-onset retinitis pigmentosa. Rated probable in DDG2P for both Cold-induced sweating syndrome type 1 (CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa, and Crisponi/CISS1-like phenotype associated with early-onset retinitis pigmentosa. No MOI listed in DD-G2P for Crisponi/CISS1-like phenotype associated with early-onset retinitis pigmentosa. No MOP listed in DD-G2P for Crisponi/CISS1-like phenotype associated with early-onset retinitis pigmentosa.; Changed phenotypes: Crisponi/CISS1-like phenotype associated with early-onset retinitis pigmentosa | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.8 | LZTR1 |
Rebecca Foulger gene: LZTR1 was added gene: LZTR1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: LZTR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: LZTR1 were set to 30368668; 29959388 Phenotypes for gene: LZTR1 were set to Noonan syndrome Mode of pathogenicity for gene: LZTR1 was set to Other - please provide details in the comments |
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DDG2P v0.8 | RAC3 |
Rebecca Foulger gene: RAC3 was added gene: RAC3 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: RAC3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RAC3 were set to 30293988 Phenotypes for gene: RAC3 were set to Neurodevelopment disorder Mode of pathogenicity for gene: RAC3 was set to Other - please provide details in the comments |
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DDG2P v0.8 | NFIB |
Rebecca Foulger gene: NFIB was added gene: NFIB was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: NFIB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NFIB were set to 30388402 Phenotypes for gene: NFIB were set to Intellectual disability with macrocephaly |
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DDG2P v0.8 | KCNK4 |
Rebecca Foulger gene: KCNK4 was added gene: KCNK4 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: KCNK4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KCNK4 were set to 30290154 Phenotypes for gene: KCNK4 were set to FHEIG (facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, and gingival overgrowth) Mode of pathogenicity for gene: KCNK4 was set to Other - please provide details in the comments |
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DDG2P v0.8 | SLC10A7 |
Rebecca Foulger gene: SLC10A7 was added gene: SLC10A7 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC10A7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC10A7 were set to 29878199; 30082715 Phenotypes for gene: SLC10A7 were set to Chondrodysplasia with multiple dislocations and amelogenesis imperfecta |
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DDG2P v0.4 | ACTB | Rebecca Foulger Publications for gene: ACTB were set to 100000 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.2 | SETD5 | Rebecca Foulger reviewed gene: SETD5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.2 | SETD2 | Rebecca Foulger reviewed gene: SETD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.2 | SETD1A | Rebecca Foulger reviewed gene: SETD1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.2 | SETBP1 | Rebecca Foulger reviewed gene: SETBP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.2 | SET | Rebecca Foulger reviewed gene: SET: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.2 | RNASET2 | Rebecca Foulger reviewed gene: RNASET2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.1 | ZSWIM6 |
Rebecca Foulger gene: ZSWIM6 was added gene: ZSWIM6 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: ZSWIM6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ZSWIM6 were set to 25105228 Phenotypes for gene: ZSWIM6 were set to ACROMELIC FRONTONASAL DYSOSTOSIS 603671 Mode of pathogenicity for gene: ZSWIM6 was set to Other - please provide details in the comments |
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DDG2P v0.1 | ZNF750 |
Rebecca Foulger gene: ZNF750 was added gene: ZNF750 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: ZNF750 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ZNF750 were set to 16751772 Phenotypes for gene: ZNF750 were set to SEBORRHEA-LIKE DERMATITIS WITH PSORIASIFORM ELEMENTS 610227 |
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DDG2P v0.1 | ZNF713 |
Rebecca Foulger gene: ZNF713 was added gene: ZNF713 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: ZNF713 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ZNF713 were set to 25196122 Phenotypes for gene: ZNF713 were set to AUTISM 209850 Mode of pathogenicity for gene: ZNF713 was set to Other - please provide details in the comments |
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DDG2P v0.1 | ZNF711 |
Rebecca Foulger gene: ZNF711 was added gene: ZNF711 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ZNF711 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: ZNF711 were set to 19377476 Phenotypes for gene: ZNF711 were set to MENTAL RETARDATION X-LINKED ZNF711-RELATED 300803 |
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DDG2P v0.1 | ZNF599 |
Rebecca Foulger gene: ZNF599 was added gene: ZNF599 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: ZNF599 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ZNF599 were set to NOT IN OMIM Mode of pathogenicity for gene: ZNF599 was set to Other - please provide details in the comments |
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DDG2P v0.1 | ZNF526 |
Rebecca Foulger gene: ZNF526 was added gene: ZNF526 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: ZNF526 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZNF526 were set to 21937992 Phenotypes for gene: ZNF526 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION Mode of pathogenicity for gene: ZNF526 was set to Other - please provide details in the comments |
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DDG2P v0.1 | ZNF462 |
Rebecca Foulger gene: ZNF462 was added gene: ZNF462 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: ZNF462 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ZNF462 were set to 28513610 Phenotypes for gene: ZNF462 were set to Craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay |
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DDG2P v0.1 | ZMYND11 |
Rebecca Foulger gene: ZMYND11 was added gene: ZMYND11 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: ZMYND11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ZMYND11 were set to 25217958; 25281490; 27626064 Phenotypes for gene: ZMYND11 were set to INTELLECTUAL DISABILITY |
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DDG2P v0.1 | ZMYND10 |
Rebecca Foulger gene: ZMYND10 was added gene: ZMYND10 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: ZMYND10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZMYND10 were set to 23891471 Phenotypes for gene: ZMYND10 were set to PRIMARY CILIARY DYSKINESIA-22 615444 |
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DDG2P v0.1 | ZMYM6 |
Rebecca Foulger gene: ZMYM6 was added gene: ZMYM6 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: ZMYM6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ZMYM6 were set to INTELLECTUAL DISABILITY |
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DDG2P v0.1 | ZMPSTE24 |
Rebecca Foulger gene: ZMPSTE24 was added gene: ZMPSTE24 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ZMPSTE24 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ZMPSTE24 were set to LETHAL RESTRICTIVE DERMOPATHY, ZMPSTE24-RELATED 319186 |
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DDG2P v0.1 | ZIC3 |
Rebecca Foulger gene: ZIC3 was added gene: ZIC3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ZIC3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ZIC3 were set to VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS 319683 |
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DDG2P v0.1 | ZIC2 |
Rebecca Foulger gene: ZIC2 was added gene: ZIC2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ZIC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ZIC2 were set to 11479728; 21638761; 9771712 Phenotypes for gene: ZIC2 were set to HOLOPROSENCEPHALY 609637 |
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DDG2P v0.1 | ZIC1 |
Rebecca Foulger gene: ZIC1 was added gene: ZIC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ZIC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ZIC1 were set to 26340333 Phenotypes for gene: ZIC1 were set to CRANIOSYNOSTOSIS 6 616602 Mode of pathogenicity for gene: ZIC1 was set to Other - please provide details in the comments |
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DDG2P v0.1 | ZFYVE26 |
Rebecca Foulger gene: ZFYVE26 was added gene: ZFYVE26 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ZFYVE26 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZFYVE26 were set to 11342696; 19805727; 18098276; 17661097 Phenotypes for gene: ZFYVE26 were set to SPASTIC PARAPLEGIA AUTOSOMAL RECESSIVE TYPE 15 270700 |
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DDG2P v0.1 | ZFPM2 |
Rebecca Foulger gene: ZFPM2 was added gene: ZFPM2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: ZFPM2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ZFPM2 were set to 24549039 Phenotypes for gene: ZFPM2 were set to 46,XY GONADAL DYSGENESIS |
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DDG2P v0.1 | ZFP57 |
Rebecca Foulger gene: ZFP57 was added gene: ZFP57 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ZFP57 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZFP57 were set to 18622393 Phenotypes for gene: ZFP57 were set to DIABETES MELLITUS, 6Q24-RELATED TRANSIENT NEONATAL 601410 |
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DDG2P v0.1 | ZEB2 |
Rebecca Foulger gene: ZEB2 was added gene: ZEB2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ZEB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ZEB2 were set to 16532472; 11891681; 11279515; 12451214; 11595972; 9719364; 12920073; 16088920; 11592033; 16688751 Phenotypes for gene: ZEB2 were set to MOWAT-WILSON SYNDROME 235730 |
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DDG2P v0.1 | ZEB1 |
Rebecca Foulger gene: ZEB1 was added gene: ZEB1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: ZEB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ZEB1 were set to CORNEAL DYSTROPHY FUCHS ENDOTHELIAL TYPE 6 613270 |
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DDG2P v0.1 | ZDHHC9 |
Rebecca Foulger gene: ZDHHC9 was added gene: ZDHHC9 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ZDHHC9 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: ZDHHC9 were set to 17436253; 26000327 Phenotypes for gene: ZDHHC9 were set to MENTAL RETARDATION SYNDROMIC X-LINKED ZDHHC9-RELATED 300799 |
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DDG2P v0.1 | ZDHHC15 |
Rebecca Foulger gene: ZDHHC15 was added gene: ZDHHC15 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: ZDHHC15 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: ZDHHC15 were set to 15915161 Phenotypes for gene: ZDHHC15 were set to MENTAL RETARDATION X-LINKED TYPE 91 300577 |
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DDG2P v0.1 | ZCCHC8 |
Rebecca Foulger gene: ZCCHC8 was added gene: ZCCHC8 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: ZCCHC8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZCCHC8 were set to 21937992 Phenotypes for gene: ZCCHC8 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION |
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DDG2P v0.1 | ZC4H2 |
Rebecca Foulger gene: ZC4H2 was added gene: ZC4H2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ZC4H2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: ZC4H2 were set to 4039531; 1915520; 23623388 Phenotypes for gene: ZC4H2 were set to ARTHROGRYPOSIS MULTIPLEX CONGENITA AND INTELLECTUAL DISABILITY 314580 |
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DDG2P v0.1 | ZBTB40 |
Rebecca Foulger gene: ZBTB40 was added gene: ZBTB40 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: ZBTB40 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZBTB40 were set to 21937992 Phenotypes for gene: ZBTB40 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION |
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DDG2P v0.1 | ZBTB20 |
Rebecca Foulger gene: ZBTB20 was added gene: ZBTB20 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ZBTB20 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ZBTB20 were set to 25017102 Phenotypes for gene: ZBTB20 were set to PRIMROSE SYNDROME 259050 Mode of pathogenicity for gene: ZBTB20 was set to Other - please provide details in the comments |
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DDG2P v0.1 | ZBTB18 |
Rebecca Foulger gene: ZBTB18 was added gene: ZBTB18 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ZBTB18 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ZBTB18 were set to ZBTB18 syndrome |
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DDG2P v0.1 | ZBTB16 |
Rebecca Foulger gene: ZBTB16 was added gene: ZBTB16 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: ZBTB16 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ZBTB16 were set to SKELETAL DEFECTS GENITAL HYPOPLASIA AND MENTAL RETARDATION 612447 Mode of pathogenicity for gene: ZBTB16 was set to Other - please provide details in the comments |
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DDG2P v0.1 | YY1 |
Rebecca Foulger gene: YY1 was added gene: YY1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: YY1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: YY1 were set to 28575647; 21076407 Phenotypes for gene: YY1 were set to INTELLECTUAL DISABILITY Mode of pathogenicity for gene: YY1 was set to Other - please provide details in the comments |
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DDG2P v0.1 | YWHAG |
Rebecca Foulger gene: YWHAG was added gene: YWHAG was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: YWHAG was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: YWHAG were set to 28777935 Phenotypes for gene: YWHAG were set to Early-Onset Epilepsy Mode of pathogenicity for gene: YWHAG was set to Other - please provide details in the comments |
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DDG2P v0.1 | YAP1 |
Rebecca Foulger gene: YAP1 was added gene: YAP1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: YAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: YAP1 were set to 24462371 Phenotypes for gene: YAP1 were set to COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION 120433 |
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DDG2P v0.1 | XYLT2 |
Rebecca Foulger gene: XYLT2 was added gene: XYLT2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: XYLT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: XYLT2 were set to 26027496 Phenotypes for gene: XYLT2 were set to SPONDYLOOCULAR SYNDROME 605822 |
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DDG2P v0.1 | XYLT1 |
Rebecca Foulger gene: XYLT1 was added gene: XYLT1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: XYLT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: XYLT1 were set to 24581741 Phenotypes for gene: XYLT1 were set to DESBUQUOIS DYSPLASIA 2 615777 |
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DDG2P v0.1 | XRCC4 |
Rebecca Foulger gene: XRCC4 was added gene: XRCC4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: XRCC4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: XRCC4 were set to 25728776 Phenotypes for gene: XRCC4 were set to PRIMORDIAL DWARFISM 615272 |
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DDG2P v0.1 | XPNPEP3 |
Rebecca Foulger gene: XPNPEP3 was added gene: XPNPEP3 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: XPNPEP3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: XPNPEP3 were set to 20179356 Phenotypes for gene: XPNPEP3 were set to NEPHRONOPHTHISIS-LIKE NEPHROPATHY TYPE 1 613159 |
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DDG2P v0.1 | XPC |
Rebecca Foulger gene: XPC was added gene: XPC was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: XPC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: XPC were set to 14662655; 11121128; 9804340; 8298653; 19478817; 11511294 Phenotypes for gene: XPC were set to XERODERMA PIGMENTOSUM, GROUP C 278720 |
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DDG2P v0.1 | XPA |
Rebecca Foulger gene: XPA was added gene: XPA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: XPA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: XPA were set to 1339397; 1372102; 2234061; 16098033 Phenotypes for gene: XPA were set to XERODERMA PIGMENTOSUM, GROUP A 278700 |
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DDG2P v0.1 | WWOX |
Rebecca Foulger gene: WWOX was added gene: WWOX was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: WWOX was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WWOX were set to 24369382 Phenotypes for gene: WWOX were set to SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12 614322 |
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DDG2P v0.1 | WT1 |
Rebecca Foulger gene: WT1 was added gene: WT1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: WT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: WT1 were set to 8388765; 1655284; 1302008; 1327525 Phenotypes for gene: WT1 were set to DENYS-DRASH SYNDROME 194080 Mode of pathogenicity for gene: WT1 was set to Other - please provide details in the comments |
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DDG2P v0.1 | WRAP53 |
Rebecca Foulger gene: WRAP53 was added gene: WRAP53 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: WRAP53 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WRAP53 were set to 21205863 Phenotypes for gene: WRAP53 were set to DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 3 613988 Mode of pathogenicity for gene: WRAP53 was set to Other - please provide details in the comments |
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DDG2P v0.1 | WNT7A |
Rebecca Foulger gene: WNT7A was added gene: WNT7A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: WNT7A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WNT7A were set to 9128926 Phenotypes for gene: WNT7A were set to FUHRMANN SYNDROME 228930 Mode of pathogenicity for gene: WNT7A was set to Other - please provide details in the comments |
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DDG2P v0.1 | WNT5A |
Rebecca Foulger gene: WNT5A was added gene: WNT5A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: WNT5A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: WNT5A were set to 5771504; 19918918 Phenotypes for gene: WNT5A were set to WNT5A-RELATED ROBINOW SYNDROME, AUTOSOMAL DOMINANT 180700 Mode of pathogenicity for gene: WNT5A was set to Other - please provide details in the comments |
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DDG2P v0.1 | WNT4 |
Rebecca Foulger gene: WNT4 was added gene: WNT4 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: WNT4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: WNT4 were set to 18179883 Phenotypes for gene: WNT4 were set to SERKAL SYNDROME 611812 Mode of pathogenicity for gene: WNT4 was set to Other - please provide details in the comments |
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DDG2P v0.1 | WNT3 |
Rebecca Foulger gene: WNT3 was added gene: WNT3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: WNT3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WNT3 were set to TETRA-AMELIA SYNDROME 276069 |
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DDG2P v0.1 | WNT10B |
Rebecca Foulger gene: WNT10B was added gene: WNT10B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: WNT10B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WNT10B were set to 20635353; 12072797 Phenotypes for gene: WNT10B were set to SPLIT-HAND/FOOT MALFORMATION TYPE 6 225300 |
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DDG2P v0.1 | WNT1 |
Rebecca Foulger gene: WNT1 was added gene: WNT1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: WNT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WNT1 were set to 23499309 Phenotypes for gene: WNT1 were set to OSTEOGENESIS IMPERFECTA |
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DDG2P v0.1 | WDR81 |
Rebecca Foulger gene: WDR81 was added gene: WDR81 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: WDR81 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WDR81 were set to 21885617 Phenotypes for gene: WDR81 were set to CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2 610185 Mode of pathogenicity for gene: WDR81 was set to Other - please provide details in the comments |
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DDG2P v0.1 | WDR73 |
Rebecca Foulger gene: WDR73 was added gene: WDR73 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: WDR73 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WDR73 were set to 25466283 Phenotypes for gene: WDR73 were set to GALLOWAY-MOWAT SYNDROME: MICROCEPHALY AND STEROID-RESISTANT NEPHROTIC SYNDROME |
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DDG2P v0.1 | WDR62 |
Rebecca Foulger gene: WDR62 was added gene: WDR62 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: WDR62 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WDR62 were set to 21834044; 10573015; 20890279; 20729831; 20890278 Phenotypes for gene: WDR62 were set to MICROCEPHALY CORTICAL MALFORMATIONS AND MENTAL RETARDATION 604317 |
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DDG2P v0.1 | WDR60 |
Rebecca Foulger gene: WDR60 was added gene: WDR60 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: WDR60 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WDR60 were set to 23910462 Phenotypes for gene: WDR60 were set to JEUNE SYNDROMES |
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DDG2P v0.1 | WDR45B |
Rebecca Foulger gene: WDR45B was added gene: WDR45B was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: WDR45B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WDR45B were set to 21937992 Phenotypes for gene: WDR45B were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION Mode of pathogenicity for gene: WDR45B was set to Other - please provide details in the comments |
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DDG2P v0.1 | WDR45 |
Rebecca Foulger gene: WDR45 was added gene: WDR45 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: WDR45 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: WDR45 were set to 23176820 Phenotypes for gene: WDR45 were set to NEURODEGENERATION WITH BRAIN IRON ACCUMULATION |
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DDG2P v0.1 | WDR35 |
Rebecca Foulger gene: WDR35 was added gene: WDR35 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: WDR35 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WDR35 were set to 20817137 Phenotypes for gene: WDR35 were set to CRANIOECTODERMAL DYSPLASIA 2 613610 |
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DDG2P v0.1 | WDR34 |
Rebecca Foulger gene: WDR34 was added gene: WDR34 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: WDR34 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WDR34 were set to 24183449 Phenotypes for gene: WDR34 were set to SHORT-RIB POLYDACTYLY SYNDROME TYPE III Mode of pathogenicity for gene: WDR34 was set to Other - please provide details in the comments |
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DDG2P v0.1 | WDR26 |
Rebecca Foulger gene: WDR26 was added gene: WDR26 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: WDR26 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: WDR26 were set to 28686853 Phenotypes for gene: WDR26 were set to Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features |
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DDG2P v0.1 | WDR19 |
Rebecca Foulger gene: WDR19 was added gene: WDR19 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: WDR19 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WDR19 were set to 22019273 Phenotypes for gene: WDR19 were set to CRANIOECTODERMAL DYSPLASIA 4 614378 |
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DDG2P v0.1 | WDR11 |
Rebecca Foulger gene: WDR11 was added gene: WDR11 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: WDR11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: WDR11 were set to KALLMANN SYNDROME Mode of pathogenicity for gene: WDR11 was set to Other - please provide details in the comments |
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DDG2P v0.1 | WDPCP |
Rebecca Foulger gene: WDPCP was added gene: WDPCP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: WDPCP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WDPCP were set to BARDET-BIEDL SYNDROME TYPE 15 209900 |
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DDG2P v0.1 | WAC |
Rebecca Foulger gene: WAC was added gene: WAC was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: WAC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: WAC were set to 26757981 Phenotypes for gene: WAC were set to INTELLECTUAL DISABILITY |
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DDG2P v0.1 | VSX2 |
Rebecca Foulger gene: VSX2 was added gene: VSX2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: VSX2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VSX2 were set to MICROPHTHALMIA WITH CATARACTS AND IRIS ABNORMALITIES 610092 |
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DDG2P v0.1 | VRK1 |
Rebecca Foulger gene: VRK1 was added gene: VRK1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: VRK1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VRK1 were set to 19646678; 21937992 Phenotypes for gene: VRK1 were set to PONTOCEREBELLAR HYPOPLASIA TYPE 1 607596 |
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DDG2P v0.1 | VPS33B |
Rebecca Foulger gene: VPS33B was added gene: VPS33B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: VPS33B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VPS33B were set to ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1 319164 |
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DDG2P v0.1 | VPS13B |
Rebecca Foulger gene: VPS13B was added gene: VPS13B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: VPS13B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VPS13B were set to COHEN SYNDROME 193538 |
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DDG2P v0.1 | VLDLR |
Rebecca Foulger gene: VLDLR was added gene: VLDLR was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: VLDLR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VLDLR were set to 18043714; 18326629; 16080122 Phenotypes for gene: VLDLR were set to CEREBELLAR ATAXIA MENTAL RETARDATION AND DYSEQUILIBRIUM SYNDROME TYPE 1 224050 |
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DDG2P v0.1 | VIPAS39 |
Rebecca Foulger gene: VIPAS39 was added gene: VIPAS39 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: VIPAS39 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VIPAS39 were set to ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2 613404 |
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DDG2P v0.1 | VIP |
Rebecca Foulger gene: VIP was added gene: VIP was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: VIP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: VIP were set to 23849776 Phenotypes for gene: VIP were set to ASPERGER |
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DDG2P v0.1 | VDR |
Rebecca Foulger gene: VDR was added gene: VDR was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: VDR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VDR were set to 2849209; 8675579; 3024987; 8961271; 9360557; 2557627; 8392085; 2177843; 17970811; 11564167; 2558018 Phenotypes for gene: VDR were set to RICKETS VITAMIN D-DEPENDENT TYPE 2A 277440 |
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DDG2P v0.1 | VANGL1 |
Rebecca Foulger gene: VANGL1 was added gene: VANGL1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: VANGL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: VANGL1 were set to 17409324 Phenotypes for gene: VANGL1 were set to NEURAL TUBE DEFECTS 182940 Mode of pathogenicity for gene: VANGL1 was set to Other - please provide details in the comments |
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DDG2P v0.1 | VAC14 |
Rebecca Foulger gene: VAC14 was added gene: VAC14 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: VAC14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VAC14 were set to 27292112 Phenotypes for gene: VAC14 were set to Progressive neurological disorder and regression of developmental milestones Mode of pathogenicity for gene: VAC14 was set to Other - please provide details in the comments |
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DDG2P v0.1 | UVSSA |
Rebecca Foulger gene: UVSSA was added gene: UVSSA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: UVSSA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UVSSA were set to UV-SENSITIVE SYNDROME 609413 |
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DDG2P v0.1 | UTP4 |
Rebecca Foulger gene: UTP4 was added gene: UTP4 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: UTP4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UTP4 were set to 12417987 Phenotypes for gene: UTP4 were set to NORTH AMERICAN INDIAN CHILDHOOD CIRRHOSIS 205306 Mode of pathogenicity for gene: UTP4 was set to Other - please provide details in the comments |
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DDG2P v0.1 | USP9X |
Rebecca Foulger gene: USP9X was added gene: USP9X was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: USP9X was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: USP9X were set to 24607389; 26833328 Phenotypes for gene: USP9X were set to MENTAL RETARDATION, X-LINKED 99 300919 |
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DDG2P v0.1 | USP7 |
Rebecca Foulger gene: USP7 was added gene: USP7 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: USP7 was set to Publications for gene: USP7 were set to 26365382 Phenotypes for gene: USP7 were set to Intellectual disability, autism, epilepsy, aggressive behaviour, hypotonia, and hypogonadism |
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DDG2P v0.1 | USP27X |
Rebecca Foulger gene: USP27X was added gene: USP27X was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: USP27X was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: USP27X were set to 25644381 Phenotypes for gene: USP27X were set to INTELLECTUAL DISABILITY |
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DDG2P v0.1 | USP18 |
Rebecca Foulger gene: USP18 was added gene: USP18 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: USP18 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: USP18 were set to 27325888 Phenotypes for gene: USP18 were set to Severe pseudo-TORCH syndrome |
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DDG2P v0.1 | USB1 |
Rebecca Foulger gene: USB1 was added gene: USB1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: USB1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: USB1 were set to 23190533; 23393019; 25044170 Phenotypes for gene: USB1 were set to Poikiloderma with neutropenia |
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DDG2P v0.1 | UROS |
Rebecca Foulger gene: UROS was added gene: UROS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: UROS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UROS were set to 7860775; 11254675; 19965637; 9834209; 1733834; 8946173; 12060141; 2331520 Phenotypes for gene: UROS were set to CONGENITAL ERYTHROPOIETIC PORPHYRIA 263700 |
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DDG2P v0.1 | UROC1 |
Rebecca Foulger gene: UROC1 was added gene: UROC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: UROC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UROC1 were set to 19304569 Phenotypes for gene: UROC1 were set to UROCANASE DEFICIENCY 276880 Mode of pathogenicity for gene: UROC1 was set to Other - please provide details in the comments |
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DDG2P v0.1 | UQCRQ |
Rebecca Foulger gene: UQCRQ was added gene: UQCRQ was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: UQCRQ was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UQCRQ were set to MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX III DEFICIENCY, UQCRQ RELATED 319211 Mode of pathogenicity for gene: UQCRQ was set to Other - please provide details in the comments |
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DDG2P v0.1 | UQCRB |
Rebecca Foulger gene: UQCRB was added gene: UQCRB was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: UQCRB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UQCRB were set to MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX III DEFICIENCY, UQCRB-RELATED 257827 |
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DDG2P v0.1 | UPF3B |
Rebecca Foulger gene: UPF3B was added gene: UPF3B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: UPF3B was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: UPF3B were set to 17704778 Phenotypes for gene: UPF3B were set to MENTAL RETARDATION SYNDROMIC X-LINKED TYPE 14 300676 |
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DDG2P v0.1 | UNC80 |
Rebecca Foulger gene: UNC80 was added gene: UNC80 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: UNC80 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UNC80 were set to 26708751; 26708753 Phenotypes for gene: UNC80 were set to Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability |
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DDG2P v0.1 | UMPS |
Rebecca Foulger gene: UMPS was added gene: UMPS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: UMPS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UMPS were set to 9042911 Phenotypes for gene: UMPS were set to OROTIC ACIDURIA TYPE 1 258900 |
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DDG2P v0.1 | UGT1A1 |
Rebecca Foulger gene: UGT1A1 was added gene: UGT1A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: UGT1A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UGT1A1 were set to 11968090; 9039987; 9497253; 9295054 Phenotypes for gene: UGT1A1 were set to CRIGLER-NAJJAR SYNDROME, TYPE I 218800 |
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DDG2P v0.1 | UFM1 |
Rebecca Foulger gene: UFM1 was added gene: UFM1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: UFM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UFM1 were set to 29868776 Phenotypes for gene: UFM1 were set to Severe early-onset encephalopathy with progressive microcephaly, |
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DDG2P v0.1 | UFC1 |
Rebecca Foulger gene: UFC1 was added gene: UFC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: UFC1 was set to Phenotypes for gene: UFC1 were set to Severe early-onset encephalopathy with progressive microcephaly |
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DDG2P v0.1 | UBTF |
Rebecca Foulger gene: UBTF was added gene: UBTF was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: UBTF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: UBTF were set to 28777933 Phenotypes for gene: UBTF were set to Childhood-Onset Neurodegeneration Mode of pathogenicity for gene: UBTF was set to Other - please provide details in the comments |
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DDG2P v0.1 | UBR7 |
Rebecca Foulger gene: UBR7 was added gene: UBR7 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: UBR7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UBR7 were set to 21937992 Phenotypes for gene: UBR7 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION Mode of pathogenicity for gene: UBR7 was set to Other - please provide details in the comments |
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DDG2P v0.1 | UBR1 |
Rebecca Foulger gene: UBR1 was added gene: UBR1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: UBR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UBR1 were set to 16311597; 19006206; 18553553 Phenotypes for gene: UBR1 were set to JOHANSON-BLIZZARD SYNDROME 243800 |
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DDG2P v0.1 | UBE3B |
Rebecca Foulger gene: UBE3B was added gene: UBE3B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: UBE3B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UBE3B were set to 21567902; 23200864 Phenotypes for gene: UBE3B were set to BLEPHAROPHIMOSIS-MENTAL RETARDATION 615057 |
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DDG2P v0.1 | UBE3A |
Rebecca Foulger gene: UBE3A was added gene: UBE3A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: UBE3A was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Phenotypes for gene: UBE3A were set to ANGELMAN SYNDROME 105830 |
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DDG2P v0.1 | UBE2T |
Rebecca Foulger gene: UBE2T was added gene: UBE2T was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: UBE2T was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UBE2T were set to 26046368 Phenotypes for gene: UBE2T were set to FANCONI ANEMIA, COMPLEMENTATION GROUP T 616435 |
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DDG2P v0.1 | UBE2A |
Rebecca Foulger gene: UBE2A was added gene: UBE2A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: UBE2A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: UBE2A were set to UBE2A-RELATED X-LINKED SYNDROMIC MENTAL RETARDATION 319562 |
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DDG2P v0.1 | UBA5 |
Rebecca Foulger gene: UBA5 was added gene: UBA5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: UBA5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UBA5 were set to 27545674; 27545681 Phenotypes for gene: UBA5 were set to Severe Infantile-Onset Encephalopathy |
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DDG2P v0.1 | TYRP1 |
Rebecca Foulger gene: TYRP1 was added gene: TYRP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TYRP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TYRP1 were set to 8651291; 15996218; 19533799; 16704458 Phenotypes for gene: TYRP1 were set to OCULOCUTANEOUS ALBINISM TYPE 3 203290 |
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DDG2P v0.1 | TYR |
Rebecca Foulger gene: TYR was added gene: TYR was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TYR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TYR were set to OCULOCUTANEOUS ALBINISM TYPE 1 203100 |
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DDG2P v0.1 | TXNL4A |
Rebecca Foulger gene: TXNL4A was added gene: TXNL4A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TXNL4A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TXNL4A were set to 25434003 Phenotypes for gene: TXNL4A were set to BURN MCKEOWN SYNDROME 608572 |
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DDG2P v0.1 | TWIST2 |
Rebecca Foulger Added phenotypes SETLEIS SYNDROME 227260 for gene: TWIST2 Publications for gene TWIST2 were changed from 26119818 to 8818454; 21931173; 14069095 |
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DDG2P v0.1 | TWIST2 |
Rebecca Foulger gene: TWIST2 was added gene: TWIST2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TWIST2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: TWIST2 were set to 26119818 Phenotypes for gene: TWIST2 were set to ABLEPHARON MACROSTOMIA SYNDROME 200110 |
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DDG2P v0.1 | TWIST1 |
Rebecca Foulger gene: TWIST1 was added gene: TWIST1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TWIST1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TWIST1 were set to 8988167; 9259286; 8988166 Phenotypes for gene: TWIST1 were set to SAETHRE-CHOTZEN SYNDROME 101400 |
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DDG2P v0.1 | TUSC3 |
Rebecca Foulger gene: TUSC3 was added gene: TUSC3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TUSC3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TUSC3 were set to 18455129; 21739581 Phenotypes for gene: TUSC3 were set to MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 7 611093 |
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DDG2P v0.1 | TUFM |
Rebecca Foulger gene: TUFM was added gene: TUFM was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TUFM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TUFM were set to 17160893 Phenotypes for gene: TUFM were set to COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4 610678 Mode of pathogenicity for gene: TUFM was set to Other - please provide details in the comments |
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DDG2P v0.1 | TUBGCP6 |
Rebecca Foulger gene: TUBGCP6 was added gene: TUBGCP6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TUBGCP6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TUBGCP6 were set to 22279524 Phenotypes for gene: TUBGCP6 were set to MICROCEPHALY AND CHORIORETINOPATHY WITH OR WITHOUT MENTAL RETARDATION 251270 |
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DDG2P v0.1 | TUBGCP4 |
Rebecca Foulger gene: TUBGCP4 was added gene: TUBGCP4 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TUBGCP4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TUBGCP4 were set to 25817018 Phenotypes for gene: TUBGCP4 were set to AUTOSOMAL-RECESSIVE MICROCEPHALY WITH CHORIORETINOPATHY. |
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DDG2P v0.1 | TUBG1 |
Rebecca Foulger gene: TUBG1 was added gene: TUBG1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TUBG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TUBG1 were set to 23603762 Phenotypes for gene: TUBG1 were set to Posteriorly predominant pachygyria and severe microcephaly Mode of pathogenicity for gene: TUBG1 was set to Other - please provide details in the comments |
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DDG2P v0.1 | TUBB4A |
Rebecca Foulger gene: TUBB4A was added gene: TUBB4A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TUBB4A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TUBB4A were set to 23582646 Phenotypes for gene: TUBB4A were set to HYPOMYELINATION WITH ATROPHY OF THE BASAL GANGLIA AND CEREBELLUM Mode of pathogenicity for gene: TUBB4A was set to Other - please provide details in the comments |
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DDG2P v0.1 | TUBB3 |
Rebecca Foulger gene: TUBB3 was added gene: TUBB3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TUBB3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TUBB3 were set to 20074521 Phenotypes for gene: TUBB3 were set to CONGENITAL FIBROSIS OF THE EXTRAOCULAR MUSCLES 600638 Mode of pathogenicity for gene: TUBB3 was set to Other - please provide details in the comments |
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DDG2P v0.1 | TUBB2B |
Rebecca Foulger gene: TUBB2B was added gene: TUBB2B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TUBB2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TUBB2B were set to 19465910; 22333901 Phenotypes for gene: TUBB2B were set to POLYMICROGYRIA ASYMMETRIC 610031 Mode of pathogenicity for gene: TUBB2B was set to Other - please provide details in the comments |
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DDG2P v0.1 | TUBB2A |
Rebecca Foulger gene: TUBB2A was added gene: TUBB2A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TUBB2A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TUBB2A were set to 24702957 Phenotypes for gene: TUBB2A were set to CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5 615763 Mode of pathogenicity for gene: TUBB2A was set to Other - please provide details in the comments |
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DDG2P v0.1 | TUBB |
Rebecca Foulger gene: TUBB was added gene: TUBB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TUBB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TUBB were set to 23246003 Phenotypes for gene: TUBB were set to CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6 615771 Mode of pathogenicity for gene: TUBB was set to Other - please provide details in the comments |
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DDG2P v0.1 | TUBA8 |
Rebecca Foulger gene: TUBA8 was added gene: TUBA8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TUBA8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TUBA8 were set to 19896110 Phenotypes for gene: TUBA8 were set to POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA 613180 |
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DDG2P v0.1 | TUBA1A |
Rebecca Foulger gene: TUBA1A was added gene: TUBA1A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TUBA1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TUBA1A were set to INTELLECTUAL DISABILITY |
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DDG2P v0.1 | TTN |
Rebecca Foulger gene: TTN was added gene: TTN was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: TTN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TTN were set to 17444505 Phenotypes for gene: TTN were set to CAUSE OF EARLY-ONSET MYOPATHY WITH FATAL CARDIOMYOPATHY 611705 |
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DDG2P v0.1 | TTI2 |
Rebecca Foulger gene: TTI2 was added gene: TTI2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TTI2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TTI2 were set to 21937992 Phenotypes for gene: TTI2 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION Mode of pathogenicity for gene: TTI2 was set to Other - please provide details in the comments |
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DDG2P v0.1 | TTC8 |
Rebecca Foulger gene: TTC8 was added gene: TTC8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TTC8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TTC8 were set to 20451172 Phenotypes for gene: TTC8 were set to RETINITIS PIGMENTOSA TYPE 51 613464 |
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DDG2P v0.1 | TTC7A |
Rebecca Foulger gene: TTC7A was added gene: TTC7A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TTC7A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TTC7A were set to 23423984 Phenotypes for gene: TTC7A were set to INTESTINAL ATRESIA, MULTIPLE 243150 |
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DDG2P v0.1 | TTC37 |
Rebecca Foulger gene: TTC37 was added gene: TTC37 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TTC37 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TTC37 were set to 20176027; 21120949 Phenotypes for gene: TTC37 were set to TRICHOHEPATOENTERIC SYNDROME 222470 |
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DDG2P v0.1 | TTC25 |
Rebecca Foulger gene: TTC25 was added gene: TTC25 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TTC25 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TTC25 were set to 27486780 Phenotypes for gene: TTC25 were set to Primary Ciliary Dyskinesia with Left-Right Body Asymmetry Randomization |
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DDG2P v0.1 | TTC19 |
Rebecca Foulger gene: TTC19 was added gene: TTC19 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TTC19 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TTC19 were set to MITOCHONDRIAL COMPLEX III DEFICIENCY 124000 |
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DDG2P v0.1 | TSPAN7 |
Rebecca Foulger gene: TSPAN7 was added gene: TSPAN7 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TSPAN7 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: TSPAN7 were set to 10449641; 10655063 Phenotypes for gene: TSPAN7 were set to MENTAL RETARDATION X-LINKED TYPE 58 300210 |
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DDG2P v0.1 | TSHZ1 |
Rebecca Foulger gene: TSHZ1 was added gene: TSHZ1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: TSHZ1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TSHZ1 were set to 22152683 Phenotypes for gene: TSHZ1 were set to AURAL ATRESIA, CONGENITAL 607842 |
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DDG2P v0.1 | TSHR |
Rebecca Foulger gene: TSHR was added gene: TSHR was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TSHR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: TSHR were set to 9329388; 7528344; 11095460; 9185526; 8954020; 10720030; 9589691; 12050212; 9100579 Phenotypes for gene: TSHR were set to HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1 275200 Mode of pathogenicity for gene: TSHR was set to Other - please provide details in the comments |
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DDG2P v0.1 | TSHB |
Rebecca Foulger gene: TSHB was added gene: TSHB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TSHB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TSHB were set to 2792087 Phenotypes for gene: TSHB were set to HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4 275100 |
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DDG2P v0.1 | TSEN54 |
Rebecca Foulger gene: TSEN54 was added gene: TSEN54 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TSEN54 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TSEN54 were set to PONTOCEREBELLAR HYPOPLASIA TYPE 2 AND TYPE 4 316970 |
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DDG2P v0.1 | TSEN34 |
Rebecca Foulger gene: TSEN34 was added gene: TSEN34 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TSEN34 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TSEN34 were set to PONTOCEREBELLAR HYPOPLASIA TYPE 2 AND TYPE 4 316970 Mode of pathogenicity for gene: TSEN34 was set to Other - please provide details in the comments |
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DDG2P v0.1 | TSEN2 |
Rebecca Foulger gene: TSEN2 was added gene: TSEN2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TSEN2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TSEN2 were set to PONTOCEREBELLAR HYPOPLASIA TYPE 2 AND TYPE 4 316970 Mode of pathogenicity for gene: TSEN2 was set to Other - please provide details in the comments |
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DDG2P v0.1 | TSEN15 |
Rebecca Foulger gene: TSEN15 was added gene: TSEN15 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TSEN15 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TSEN15 were set to 27392077 Phenotypes for gene: TSEN15 were set to Pontocerebellar Hypoplasia and Progressive Microcephaly Mode of pathogenicity for gene: TSEN15 was set to Other - please provide details in the comments |
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DDG2P v0.1 | TSC2 |
Rebecca Foulger gene: TSC2 was added gene: TSC2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TSC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TSC2 were set to LYMPHANGIOLEIOMYOMATOSIS 606690 |
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DDG2P v0.1 | TSC1 |
Rebecca Foulger gene: TSC1 was added gene: TSC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TSC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TSC1 were set to 10053179; 10340649; 18830229; 9242607 Phenotypes for gene: TSC1 were set to TUBEROUS SCLEROSIS TYPE 1 191100 |
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DDG2P v0.1 | TRPV4 |
Rebecca Foulger gene: TRPV4 was added gene: TRPV4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TRPV4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TRPV4 were set to 20577006; 19232556 Phenotypes for gene: TRPV4 were set to SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE 184252 Mode of pathogenicity for gene: TRPV4 was set to Other - please provide details in the comments |
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DDG2P v0.1 | TRPV3 |
Rebecca Foulger gene: TRPV3 was added gene: TRPV3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TRPV3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TRPV3 were set to 22405088 Phenotypes for gene: TRPV3 were set to OLMSTED SYNDROME 614594 Mode of pathogenicity for gene: TRPV3 was set to Other - please provide details in the comments |
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DDG2P v0.1 | TRPS1 |
Rebecca Foulger gene: TRPS1 was added gene: TRPS1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TRPS1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TRPS1 were set to 11359471; 14560312; 10615131 Phenotypes for gene: TRPS1 were set to TRICHO-RHINO-PHALANGEAL SYNDROME TYPE 1 190350 |
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DDG2P v0.1 | TRPM1 |
Rebecca Foulger gene: TRPM1 was added gene: TRPM1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TRPM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRPM1 were set to 19878917; 20300565; 19896109; 19896113 Phenotypes for gene: TRPM1 were set to NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C 613216 |
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DDG2P v0.1 | TRMT10C |
Rebecca Foulger gene: TRMT10C was added gene: TRMT10C was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TRMT10C was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRMT10C were set to 27132592 Phenotypes for gene: TRMT10C were set to Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies Mode of pathogenicity for gene: TRMT10C was set to Other - please provide details in the comments |
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DDG2P v0.1 | TRMT1 |
Rebecca Foulger gene: TRMT1 was added gene: TRMT1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: TRMT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRMT1 were set to 21937992 Phenotypes for gene: TRMT1 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION |
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DDG2P v0.1 | TRIT1 |
Rebecca Foulger gene: TRIT1 was added gene: TRIT1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: TRIT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRIT1 were set to 24901367 Phenotypes for gene: TRIT1 were set to tRNA isopentenyltransferase deficiency Mode of pathogenicity for gene: TRIT1 was set to Other - please provide details in the comments |
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DDG2P v0.1 | TRIP4 |
Rebecca Foulger gene: TRIP4 was added gene: TRIP4 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TRIP4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRIP4 were set to 26924529 Phenotypes for gene: TRIP4 were set to Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures |
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DDG2P v0.1 | TRIP13 |
Rebecca Foulger gene: TRIP13 was added gene: TRIP13 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TRIP13 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRIP13 were set to 28553959 Phenotypes for gene: TRIP13 were set to Mosaic Variegated Aneuploidy and Wilms Tumour |
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DDG2P v0.1 | TRIP12 |
Rebecca Foulger gene: TRIP12 was added gene: TRIP12 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TRIP12 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TRIP12 were set to 28251352; 27848077 Phenotypes for gene: TRIP12 were set to TRIP12-related intellectual disability with/without autism spectrum disorder |
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DDG2P v0.1 | TRIP11 |
Rebecca Foulger gene: TRIP11 was added gene: TRIP11 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TRIP11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRIP11 were set to 20089971 Phenotypes for gene: TRIP11 were set to ACHONDROGENESIS TYPE 1A 200600 |
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DDG2P v0.1 | TRIO |
Rebecca Foulger gene: TRIO was added gene: TRIO was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TRIO was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TRIO were set to 26235986 Phenotypes for gene: TRIO were set to INTELLECTUAL DISABILITY Mode of pathogenicity for gene: TRIO was set to Other - please provide details in the comments |
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DDG2P v0.1 | TRIM37 |
Rebecca Foulger gene: TRIM37 was added gene: TRIM37 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TRIM37 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TRIM37 were set to MULIBREY NANISM 213300 |
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DDG2P v0.1 | TRIM32 |
Rebecca Foulger gene: TRIM32 was added gene: TRIM32 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TRIM32 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TRIM32 were set to BARDET-BIEDL SYNDROME TYPE 11 209900 |
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DDG2P v0.1 | TREX1 |
Rebecca Foulger gene: TREX1 was added gene: TREX1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TREX1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TREX1 were set to 17357087; 16845398 Phenotypes for gene: TREX1 were set to AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE 225750 |
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DDG2P v0.1 | TRAPPC9 |
Rebecca Foulger gene: TRAPPC9 was added gene: TRAPPC9 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TRAPPC9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRAPPC9 were set to 22549410; 20004763; 17120046; 20004764 Phenotypes for gene: TRAPPC9 were set to MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 13 613192 |
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DDG2P v0.1 | TRAPPC2 |
Rebecca Foulger gene: TRAPPC2 was added gene: TRAPPC2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TRAPPC2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: TRAPPC2 were set to SPONDYLOEPIPHYSEAL DYSPLASIA TARDA 313400 |
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DDG2P v0.1 | TRAPPC12 |
Rebecca Foulger gene: TRAPPC12 was added gene: TRAPPC12 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TRAPPC12 was set to Publications for gene: TRAPPC12 were set to 28777934 Phenotypes for gene: TRAPPC12 were set to Progressive Childhood Encephalopathy and Golgi Dysfunction |
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DDG2P v0.1 | TRAPPC11 |
Rebecca Foulger gene: TRAPPC11 was added gene: TRAPPC11 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TRAPPC11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRAPPC11 were set to 23830518 Phenotypes for gene: TRAPPC11 were set to MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2S 615356 |
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DDG2P v0.1 | TRAIP |
Rebecca Foulger gene: TRAIP was added gene: TRAIP was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TRAIP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRAIP were set to 26595769 Phenotypes for gene: TRAIP were set to PRIMORDIAL DWARFISM 615272 |
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DDG2P v0.1 | TRAF7 |
Rebecca Foulger gene: TRAF7 was added gene: TRAF7 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TRAF7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TRAF7 were set to 29961569 Phenotypes for gene: TRAF7 were set to Developmental delay, congenital malformations and dysmorphism Mode of pathogenicity for gene: TRAF7 was set to Other - please provide details in the comments |
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DDG2P v0.1 | TPP1 |
Rebecca Foulger gene: TPP1 was added gene: TPP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TPP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TPP1 were set to 9295267; 12414822; 10330339; 12376936; 10665500; 17959406 Phenotypes for gene: TPP1 were set to NEURONAL CEROID LIPOFUSCINOSIS TYPE 2 204500 |
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DDG2P v0.1 | TPM2 |
Rebecca Foulger gene: TPM2 was added gene: TPM2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TPM2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TPM2 were set to 12592607 Phenotypes for gene: TPM2 were set to ARTHROGRYPOSIS, DISTAL, TYPE 1 Mode of pathogenicity for gene: TPM2 was set to Other - please provide details in the comments |
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DDG2P v0.1 | TP63 |
Rebecca Foulger gene: TP63 was added gene: TP63 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TP63 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TP63 were set to 10535733; 9443880; 12838557; 10839977; 21204238 Phenotypes for gene: TP63 were set to ECTRODACTYLY-ECTODERMAL DYSPLASIA-CLEFT LIP/PALATE SYNDROME TYPE 3 604292 |
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DDG2P v0.1 | TOE1 |
Rebecca Foulger gene: TOE1 was added gene: TOE1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TOE1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TOE1 were set to 28092684 Phenotypes for gene: TOE1 were set to PONTOCEREBELLAR HYPOPLASIA |
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DDG2P v0.1 | TNFRSF13B |
Rebecca Foulger gene: TNFRSF13B was added gene: TNFRSF13B was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TNFRSF13B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TNFRSF13B were set to 16007086 Phenotypes for gene: TNFRSF13B were set to IMMUNODEFICIENCY, COMMON VARIABLE, 2 240500 |
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DDG2P v0.1 | TMTC3 |
Rebecca Foulger gene: TMTC3 was added gene: TMTC3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TMTC3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMTC3 were set to 27773428 Phenotypes for gene: TMTC3 were set to Cobblestone Lissencephaly |
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DDG2P v0.1 | TMPRSS6 |
Rebecca Foulger gene: TMPRSS6 was added gene: TMPRSS6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TMPRSS6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMPRSS6 were set to 19592582; 19357398; 18596229; 18408718 Phenotypes for gene: TMPRSS6 were set to IRON-REFRACTORY IRON DEFICIENCY ANEMIA 206200 |
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DDG2P v0.1 | TMEM70 |
Rebecca Foulger gene: TMEM70 was added gene: TMEM70 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TMEM70 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM70 were set to 18953340; 21147908 Phenotypes for gene: TMEM70 were set to MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2 614052 |
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DDG2P v0.1 | TMEM67 |
Rebecca Foulger gene: TMEM67 was added gene: TMEM67 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TMEM67 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TMEM67 were set to COACH SYNDROM 216360 |
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DDG2P v0.1 | TMEM5 |
Rebecca Foulger gene: TMEM5 was added gene: TMEM5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TMEM5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM5 were set to 23217329; 23519211 Phenotypes for gene: TMEM5 were set to SEVERE COBBLESTONE LISSENCEPHALY 615041 |
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DDG2P v0.1 | TMEM260 |
Rebecca Foulger gene: TMEM260 was added gene: TMEM260 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TMEM260 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM260 were set to 28318500 Phenotypes for gene: TMEM260 were set to Neurodevelopmental, Cardiac, and Renal Syndrome |
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DDG2P v0.1 | TMEM237 |
Rebecca Foulger gene: TMEM237 was added gene: TMEM237 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TMEM237 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM237 were set to 22152675; 14760273; 17603801 Phenotypes for gene: TMEM237 were set to JOUBERT SYNDROME 14 614424 |
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DDG2P v0.1 | TMEM216 |
Rebecca Foulger gene: TMEM216 was added gene: TMEM216 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TMEM216 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM216 were set to 20036350; 20512146 Phenotypes for gene: TMEM216 were set to JOUBERT SYNDROME 2 608091 Mode of pathogenicity for gene: TMEM216 was set to Other - please provide details in the comments |
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DDG2P v0.1 | TMEM199 |
Rebecca Foulger gene: TMEM199 was added gene: TMEM199 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TMEM199 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM199 were set to 26833330 Phenotypes for gene: TMEM199 were set to Disorder of Golgi homeostasis |
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DDG2P v0.1 | TMEM165 |
Rebecca Foulger gene: TMEM165 was added gene: TMEM165 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TMEM165 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM165 were set to 22683087 Phenotypes for gene: TMEM165 were set to CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIK 614727 |
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DDG2P v0.1 | TMEM135 |
Rebecca Foulger gene: TMEM135 was added gene: TMEM135 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: TMEM135 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM135 were set to 21937992 Phenotypes for gene: TMEM135 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION Mode of pathogenicity for gene: TMEM135 was set to Other - please provide details in the comments |
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DDG2P v0.1 | TMEM126B |
Rebecca Foulger gene: TMEM126B was added gene: TMEM126B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TMEM126B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM126B were set to 27374774; 27374773 Phenotypes for gene: TMEM126B were set to Muscle Weakness and Isolated Complex I Deficiency |
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DDG2P v0.1 | TMEM114 |
Rebecca Foulger gene: TMEM114 was added gene: TMEM114 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: TMEM114 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TMEM114 were set to 17492639 Phenotypes for gene: TMEM114 were set to CONGENITAL AND JUVENILE CATARACT 611579 |
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DDG2P v0.1 | TMCO1 |
Rebecca Foulger gene: TMCO1 was added gene: TMCO1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TMCO1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMCO1 were set to 20018682 Phenotypes for gene: TMCO1 were set to CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME 213980 |
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DDG2P v0.1 | TM4SF20 |
Rebecca Foulger gene: TM4SF20 was added gene: TM4SF20 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: TM4SF20 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TM4SF20 were set to 23810381 Phenotypes for gene: TM4SF20 were set to SPECIFIC LANGUAGE IMPAIRMENT 5 615432 |
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DDG2P v0.1 | TLL1 |
Rebecca Foulger gene: TLL1 was added gene: TLL1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: TLL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TLL1 were set to 18830233 Phenotypes for gene: TLL1 were set to ATRIAL SEPTAL DEFECT TYPE 6 613087 Mode of pathogenicity for gene: TLL1 was set to Other - please provide details in the comments |
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DDG2P v0.1 | TLK2 |
Rebecca Foulger gene: TLK2 was added gene: TLK2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: TLK2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TLK2 were set to 27479843 Phenotypes for gene: TLK2 were set to TLK2 syndrome |
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DDG2P v0.1 | TKT |
Rebecca Foulger gene: TKT was added gene: TKT was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TKT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TKT were set to 27259054 Phenotypes for gene: TKT were set to Short Stature, Developmental Delay, and Congenital Heart Defects |
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DDG2P v0.1 | TK2 |
Rebecca Foulger gene: TK2 was added gene: TK2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TK2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TK2 were set to MITOCHONDRIAL DNA DEPLETION SYNDROME, MYOPATHIC FORM 258276 Mode of pathogenicity for gene: TK2 was set to Other - please provide details in the comments |
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DDG2P v0.1 | TINF2 |
Rebecca Foulger gene: TINF2 was added gene: TINF2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TINF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TINF2 were set to 18252230 Phenotypes for gene: TINF2 were set to EXUDATIVE RETINOPATHY WITH BONE MARROW FAILURE |
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DDG2P v0.1 | TIMM8A |
Rebecca Foulger gene: TIMM8A was added gene: TIMM8A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TIMM8A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: TIMM8A were set to JENSEN SYNDROME 311150 |
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DDG2P v0.1 | THRA |
Rebecca Foulger gene: THRA was added gene: THRA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: THRA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: THRA were set to 22168587; 22494134 Phenotypes for gene: THRA were set to HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6 614450 |
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DDG2P v0.1 | THOC6 |
Rebecca Foulger gene: THOC6 was added gene: THOC6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: THOC6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: THOC6 were set to 27295358; 23621916; 26739162 Phenotypes for gene: THOC6 were set to Beaulieu-Boycott-Innes syndrome |
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DDG2P v0.1 | THOC2 |
Rebecca Foulger gene: THOC2 was added gene: THOC2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: THOC2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: THOC2 were set to 26166480 Phenotypes for gene: THOC2 were set to MENTAL RETARDATION, X-LINKED 12 300957 Mode of pathogenicity for gene: THOC2 was set to Other - please provide details in the comments |
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DDG2P v0.1 | THAP1 |
Rebecca Foulger gene: THAP1 was added gene: THAP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: THAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: THAP1 were set to DYSTONIA 6, TORSION 602629 |
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DDG2P v0.1 | TH |
Rebecca Foulger gene: TH was added gene: TH was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TH were set to 17696123; 8528210; 7814018; 9703425; 10585338; 21937992; 8817341; 9732974; 11246459 Phenotypes for gene: TH were set to DOPA-RESPONSIVE DYSTONIA 605407 |
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DDG2P v0.1 | TGIF1 |
Rebecca Foulger gene: TGIF1 was added gene: TGIF1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TGIF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TGIF1 were set to HOLOPROSENCEPHALY 609637 |
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DDG2P v0.1 | TGFBR2 |
Rebecca Foulger gene: TGFBR2 was added gene: TGFBR2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TGFBR2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TGFBR2 were set to LOEYS-DIETZ SYNDROME |
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DDG2P v0.1 | TGFBR1 |
Rebecca Foulger gene: TGFBR1 was added gene: TGFBR1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TGFBR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TGFBR1 were set to 16791849; 16928994; 18070134 Phenotypes for gene: TGFBR1 were set to LOEYS-DIETZ SYNDROME TYPE 2A 608967 Mode of pathogenicity for gene: TGFBR1 was set to Other - please provide details in the comments |
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DDG2P v0.1 | TGFB3 |
Rebecca Foulger gene: TGFB3 was added gene: TGFB3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TGFB3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TGFB3 were set to 24798638 Phenotypes for gene: TGFB3 were set to LOEYS-DIETZ SYNDROME |
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DDG2P v0.1 | TGFB2 |
Rebecca Foulger gene: TGFB2 was added gene: TGFB2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TGFB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TGFB2 were set to LOEYS-DIETZ SYNDROME, TYPE 4 614816 |
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DDG2P v0.1 | TGFB1 |
Rebecca Foulger gene: TGFB1 was added gene: TGFB1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TGFB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TGFB1 were set to 10973241; 15103729; 11062463 Phenotypes for gene: TGFB1 were set to CAMURATI-ENGELMANN DISEASE 131300 Mode of pathogenicity for gene: TGFB1 was set to Other - please provide details in the comments |
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DDG2P v0.1 | TGDS |
Rebecca Foulger gene: TGDS was added gene: TGDS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TGDS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TGDS were set to 25480037 Phenotypes for gene: TGDS were set to CATEL-MANZKE SYNDROME 616145 |
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DDG2P v0.1 | TFRC |
Rebecca Foulger gene: TFRC was added gene: TFRC was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: TFRC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TFRC were set to 26642240 Phenotypes for gene: TFRC were set to Combined immunodeficiency Mode of pathogenicity for gene: TFRC was set to Other - please provide details in the comments |
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DDG2P v0.1 | TFAP2B |
Rebecca Foulger gene: TFAP2B was added gene: TFAP2B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TFAP2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TFAP2B were set to 11505339; 10802654; 7645594 Phenotypes for gene: TFAP2B were set to CHAR SYNDROME 169100 Mode of pathogenicity for gene: TFAP2B was set to Other - please provide details in the comments |
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DDG2P v0.1 | TFAP2A |
Rebecca Foulger gene: TFAP2A was added gene: TFAP2A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TFAP2A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TFAP2A were set to BRANCHIOOCULOFACIAL SYNDROME 113620 Mode of pathogenicity for gene: TFAP2A was set to Other - please provide details in the comments |
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DDG2P v0.1 | TERT |
Rebecca Foulger gene: TERT was added gene: TERT was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TERT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TERT were set to 17785587 Phenotypes for gene: TERT were set to Dyskeratosis congenita, autosomal recessive 4 Mode of pathogenicity for gene: TERT was set to Other - please provide details in the comments |
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DDG2P v0.1 | TERC |
Rebecca Foulger gene: TERC was added gene: TERC was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TERC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TERC were set to 12090986 Phenotypes for gene: TERC were set to Dyskeratosis congenita, autosomal dominant 1 |
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DDG2P v0.1 | TELO2 |
Rebecca Foulger gene: TELO2 was added gene: TELO2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TELO2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TELO2 were set to 27132593 Phenotypes for gene: TELO2 were set to TELO2 Syndromic Intellectual Disability Disorder Mode of pathogenicity for gene: TELO2 was set to Other - please provide details in the comments |
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DDG2P v0.1 | TEK |
Rebecca Foulger gene: TEK was added gene: TEK was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TEK was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TEK were set to 19888299; 7833915; 10369874 Phenotypes for gene: TEK were set to VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL 600195 Mode of pathogenicity for gene: TEK was set to Other - please provide details in the comments |
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DDG2P v0.1 | TECPR2 |
Rebecca Foulger gene: TECPR2 was added gene: TECPR2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TECPR2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TECPR2 were set to 23176824 Phenotypes for gene: TECPR2 were set to HEREDITARY SPASTIC PARAPARESIS 615031 |
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DDG2P v0.1 | TDRD7 |
Rebecca Foulger gene: TDRD7 was added gene: TDRD7 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: TDRD7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TDRD7 were set to CATARACT CONGENITAL AUTOSOMAL RECESSIVE TYPE 4 613887 Mode of pathogenicity for gene: TDRD7 was set to Other - please provide details in the comments |
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DDG2P v0.1 | TCTN3 |
Rebecca Foulger gene: TCTN3 was added gene: TCTN3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TCTN3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TCTN3 were set to 22883145 Phenotypes for gene: TCTN3 were set to MOHR-MAJEWSKI SYNDROME 258860 |
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DDG2P v0.1 | TCTN2 |
Rebecca Foulger gene: TCTN2 was added gene: TCTN2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TCTN2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TCTN2 were set to JOUBERT SYNDROME AND RELATED DISORDERS 194263 |
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DDG2P v0.1 | TCTN1 |
Rebecca Foulger gene: TCTN1 was added gene: TCTN1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TCTN1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TCTN1 were set to JOUBERT SYNDROME AND RELATED DISORDERS 194263 |
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DDG2P v0.1 | TCOF1 |
Rebecca Foulger gene: TCOF1 was added gene: TCOF1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TCOF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TCOF1 were set to 15039977; 11013442; 9096354; 8563749; 12114482; 15214011; 14598341 Phenotypes for gene: TCOF1 were set to TREACHER COLLINS SYNDROME TYPE 1 154500 |
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DDG2P v0.1 | TCN2 |
Rebecca Foulger gene: TCN2 was added gene: TCN2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TCN2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TCN2 were set to 7849710 Phenotypes for gene: TCN2 were set to Transcobalamin II deficiency |
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DDG2P v0.1 | TCF4 |
Rebecca Foulger gene: TCF4 was added gene: TCF4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TCF4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TCF4 were set to 17436254; 17436255; 18728071 Phenotypes for gene: TCF4 were set to PITT-HOPKINS SYNDROME 610954 |
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DDG2P v0.1 | TCF20 |
Rebecca Foulger gene: TCF20 was added gene: TCF20 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TCF20 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TCF20 were set to 28135719; 25228304; 27436265 Phenotypes for gene: TCF20 were set to TCF20 syndrome |
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DDG2P v0.1 | TCF12 |
Rebecca Foulger gene: TCF12 was added gene: TCF12 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TCF12 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TCF12 were set to 23354436 Phenotypes for gene: TCF12 were set to CORONAL CRANIOSYNOSTOSIS |
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DDG2P v0.1 | TBXAS1 |
Rebecca Foulger gene: TBXAS1 was added gene: TBXAS1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TBXAS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TBXAS1 were set to GHOSAL HEMATODIAPHYSEAL SYNDROME 231095 Mode of pathogenicity for gene: TBXAS1 was set to Other - please provide details in the comments |
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DDG2P v0.1 | TBX5 |
Rebecca Foulger gene: TBX5 was added gene: TBX5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TBX5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TBX5 were set to HOLT-ORAM SYNDROME 142900 |
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DDG2P v0.1 | TBX4 |
Rebecca Foulger gene: TBX4 was added gene: TBX4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TBX4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TBX4 were set to 11303519; 15106123 Phenotypes for gene: TBX4 were set to SMALL PATELLA SYNDROME 147891 |
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DDG2P v0.1 | TBX3 |
Rebecca Foulger gene: TBX3 was added gene: TBX3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TBX3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TBX3 were set to 19938096; 9207801; 12116211; 12668170 Phenotypes for gene: TBX3 were set to ULNAR-MAMMARY SYNDROME 181450 |
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DDG2P v0.1 | TBX22 |
Rebecca Foulger gene: TBX22 was added gene: TBX22 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TBX22 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: TBX22 were set to CLEFT PALATE, X-LINKED 304011 |
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DDG2P v0.1 | TBX20 |
Rebecca Foulger gene: TBX20 was added gene: TBX20 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TBX20 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TBX20 were set to 17668378; 19762328 Phenotypes for gene: TBX20 were set to ATRIAL SEPTAL DEFECT TYPE 4 611363 |
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DDG2P v0.1 | TBX18 |
Rebecca Foulger gene: TBX18 was added gene: TBX18 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TBX18 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TBX18 were set to 26235987 Phenotypes for gene: TBX18 were set to CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 2 143400 |
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DDG2P v0.1 | TBX15 |
Rebecca Foulger gene: TBX15 was added gene: TBX15 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TBX15 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TBX15 were set to 19068278; 24039145 Phenotypes for gene: TBX15 were set to Craniofacial Dysmorphism, Hypoplasia of Scapula and Pelvis, and Short Stature; Cousin Syndrome |
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DDG2P v0.1 | TBX1 |
Rebecca Foulger gene: TBX1 was added gene: TBX1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TBX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TBX1 were set to 14585638 Phenotypes for gene: TBX1 were set to 22Q11.2 DELETION SYNDROME 188400 |
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DDG2P v0.1 | TBR1 |
Rebecca Foulger gene: TBR1 was added gene: TBR1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TBR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TBR1 were set to 23160955 Phenotypes for gene: TBR1 were set to AUTISM 209850 |
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DDG2P v0.1 | TBL1XR1 |
Rebecca Foulger gene: TBL1XR1 was added gene: TBL1XR1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TBL1XR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TBL1XR1 were set to 23160955; 25425123 Phenotypes for gene: TBL1XR1 were set to Intellectual disability with autism spectrum disorder |
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DDG2P v0.1 | TBCK |
Rebecca Foulger gene: TBCK was added gene: TBCK was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TBCK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TBCK were set to 27040692; 27748029; 27040691 Phenotypes for gene: TBCK were set to Severe Infantile Syndromic Encephalopathy |
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DDG2P v0.1 | TBCE |
Rebecca Foulger Added phenotypes Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy for gene: TBCE Publications for gene TBCE were changed from 12389028 to 27666369 |
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DDG2P v0.1 | TBCE |
Rebecca Foulger gene: TBCE was added gene: TBCE was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TBCE was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TBCE were set to 12389028 Phenotypes for gene: TBCE were set to KENNY-CAFFEY SYNDROME TYPE 1 244460 |
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DDG2P v0.1 | TBCD |
Rebecca Foulger gene: TBCD was added gene: TBCD was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TBCD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TBCD were set to 27666374; 27666370 Phenotypes for gene: TBCD were set to Early-Onset Neurodegenerative Encephalopathy |
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DDG2P v0.1 | TBC1D24 |
Rebecca Foulger gene: TBC1D24 was added gene: TBC1D24 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TBC1D24 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TBC1D24 were set to NON SYNDROMAL HEARING LOSS 614617 |
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DDG2P v0.1 | TBC1D23 |
Rebecca Foulger gene: TBC1D23 was added gene: TBC1D23 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TBC1D23 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TBC1D23 were set to 28823706; 28823707 Phenotypes for gene: TBC1D23 were set to Non-degenerative Pontocerebellar Hypoplasia |
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DDG2P v0.1 | TBC1D20 |
Rebecca Foulger gene: TBC1D20 was added gene: TBC1D20 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TBC1D20 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TBC1D20 were set to 24239381 Phenotypes for gene: TBC1D20 were set to Warburg micro syndrome 4 |
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DDG2P v0.1 | TAZ |
Rebecca Foulger gene: TAZ was added gene: TAZ was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TAZ was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: TAZ were set to 8630491 Phenotypes for gene: TAZ were set to BARTH SYNDROME 302060 |
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DDG2P v0.1 | TAT |
Rebecca Foulger gene: TAT was added gene: TAT was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TAT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TAT were set to 1357662 Phenotypes for gene: TAT were set to TYROSINEMIA TYPE 2 276600 |
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DDG2P v0.1 | TAPT1 |
Rebecca Foulger gene: TAPT1 was added gene: TAPT1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TAPT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TAPT1 were set to 26365339 Phenotypes for gene: TAPT1 were set to COMPLEX LETHAL OSTEOCHONDRODYSPLASIA |
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DDG2P v0.1 | TANGO2 |
Rebecca Foulger gene: TANGO2 was added gene: TANGO2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TANGO2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TANGO2 were set to 26805782; 26805781 Phenotypes for gene: TANGO2 were set to Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy |
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DDG2P v0.1 | TAF2 |
Rebecca Foulger gene: TAF2 was added gene: TAF2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: TAF2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TAF2 were set to 21937992 Phenotypes for gene: TAF2 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION Mode of pathogenicity for gene: TAF2 was set to Other - please provide details in the comments |
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DDG2P v0.1 | TAF13 |
Rebecca Foulger gene: TAF13 was added gene: TAF13 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TAF13 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TAF13 were set to 28257693 Phenotypes for gene: TAF13 were set to Autosomal-Recessive Intellectual Disability and Microcephaly Mode of pathogenicity for gene: TAF13 was set to Other - please provide details in the comments |
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DDG2P v0.1 | TAF1 |
Rebecca Foulger gene: TAF1 was added gene: TAF1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TAF1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: TAF1 were set to 26637982 Phenotypes for gene: TAF1 were set to Dysmorphic Features, Intellectual Disability, and Neurological Manifestations |
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DDG2P v0.1 | TACR3 |
Rebecca Foulger gene: TACR3 was added gene: TACR3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TACR3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TACR3 were set to 19079066 Phenotypes for gene: TACR3 were set to HYPOGONADOTROPIC HYPOGONADISM 146110 Mode of pathogenicity for gene: TACR3 was set to Other - please provide details in the comments |
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DDG2P v0.1 | TACO1 |
Rebecca Foulger gene: TACO1 was added gene: TACO1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TACO1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TACO1 were set to LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX IV DEFICIENCY 256000 |
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DDG2P v0.1 | TAC3 |
Rebecca Foulger gene: TAC3 was added gene: TAC3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TAC3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TAC3 were set to 19079066 Phenotypes for gene: TAC3 were set to HYPOGONADOTROPIC HYPOGONADISM 146110 Mode of pathogenicity for gene: TAC3 was set to Other - please provide details in the comments |
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DDG2P v0.1 | TAB2 |
Rebecca Foulger gene: TAB2 was added gene: TAB2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TAB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TAB2 were set to 27479907; 20493459 Phenotypes for gene: TAB2 were set to CONGENITAL HEART DISEASE, NONSYNDROMIC, 2 612863 Mode of pathogenicity for gene: TAB2 was set to Other - please provide details in the comments |
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DDG2P v0.1 | SZT2 |
Rebecca Foulger gene: SZT2 was added gene: SZT2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SZT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SZT2 were set to 23932106 Phenotypes for gene: SZT2 were set to INFANTILE ENCEPHALOPATHY WITH EPILEPSY AND DYSMORPHIC CORPUS CALLOSUM |
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DDG2P v0.1 | SYT1 |
Rebecca Foulger gene: SYT1 was added gene: SYT1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: SYT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SYT1 were set to 25705886 Phenotypes for gene: SYT1 were set to INTELLECTUAL DISABILITY Mode of pathogenicity for gene: SYT1 was set to Other - please provide details in the comments |
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DDG2P v0.1 | SYP |
Rebecca Foulger gene: SYP was added gene: SYP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SYP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: SYP were set to 19377476 Phenotypes for gene: SYP were set to MENTAL RETARDATION X-LINKED SYP-RELATED 300802 |
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DDG2P v0.1 | SYNGAP1 |
Rebecca Foulger gene: SYNGAP1 was added gene: SYNGAP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SYNGAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SYNGAP1 were set to 23708187 Phenotypes for gene: SYNGAP1 were set to EPILEPTIC ENCEPHALOPATHY |
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DDG2P v0.1 | SYNE1 |
Rebecca Foulger gene: SYNE1 was added gene: SYNE1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SYNE1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SYNE1 were set to EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL RECESSIVE 612998 |
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DDG2P v0.1 | SYN1 |
Rebecca Foulger gene: SYN1 was added gene: SYN1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SYN1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: SYN1 were set to EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS 290927 |
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DDG2P v0.1 | SURF1 |
Rebecca Foulger gene: SURF1 was added gene: SURF1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SURF1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SURF1 were set to LEIGH SYNDROME 256000 |
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DDG2P v0.1 | SUMO1 |
Rebecca Foulger gene: SUMO1 was added gene: SUMO1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: SUMO1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SUMO1 were set to 16990542 Phenotypes for gene: SUMO1 were set to CLEFT LIP +/- CLEFT PALATE 608874 |
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DDG2P v0.1 | SUMF1 |
Rebecca Foulger gene: SUMF1 was added gene: SUMF1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SUMF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SUMF1 were set to 12757706; 12757705; 21224894 Phenotypes for gene: SUMF1 were set to SULFATIDOSIS, JUVENILE, AUSTIN TYPE 272200 |
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DDG2P v0.1 | SUFU |
Rebecca Foulger gene: SUFU was added gene: SUFU was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SUFU was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SUFU were set to 28965847 Phenotypes for gene: SUFU were set to Joubert Syndrome with Cranio-facial and Skeletal Defects Mode of pathogenicity for gene: SUFU was set to Other - please provide details in the comments |
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DDG2P v0.1 | SUCLG1 |
Rebecca Foulger gene: SUCLG1 was added gene: SUCLG1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SUCLG1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SUCLG1 were set to FATAL INFANTILE LACTIC ACIDOSIS 308078 |
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DDG2P v0.1 | STXBP1 |
Rebecca Foulger gene: STXBP1 was added gene: STXBP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: STXBP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: STXBP1 were set to ANGELMAN/PITT HOPKINS SYNDROME-LIKE DISORDER |
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DDG2P v0.1 | STX1B |
Rebecca Foulger gene: STX1B was added gene: STX1B was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: STX1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: STX1B were set to 25362483 Phenotypes for gene: STX1B were set to GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9 616172 |
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DDG2P v0.1 | STT3B |
Rebecca Foulger gene: STT3B was added gene: STT3B was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: STT3B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: STT3B were set to 23842455 Phenotypes for gene: STT3B were set to CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IX 615597 |
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DDG2P v0.1 | STT3A |
Rebecca Foulger gene: STT3A was added gene: STT3A was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: STT3A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: STT3A were set to 23842455 Phenotypes for gene: STT3A were set to CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW 615596 Mode of pathogenicity for gene: STT3A was set to Other - please provide details in the comments |
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DDG2P v0.1 | STS |
Rebecca Foulger gene: STS was added gene: STS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: STS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: STS were set to 3032454; 9252398; 1539590 Phenotypes for gene: STS were set to ICHTHYOSIS, X-LINKED 308100 |
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DDG2P v0.1 | STRA6 |
Rebecca Foulger gene: STRA6 was added gene: STRA6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: STRA6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: STRA6 were set to 17503335; 17273977; 21901792; 11857549; 19839040 Phenotypes for gene: STRA6 were set to MICROPHTHALMIA SYNDROMIC TYPE 9 601186 |
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DDG2P v0.1 | STN1 |
Rebecca Foulger gene: STN1 was added gene: STN1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: STN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: STN1 were set to 27432940 Phenotypes for gene: STN1 were set to Cerebroretinal microangiopathy with calcifications and cysts 2 |
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DDG2P v0.1 | STIM1 |
Rebecca Foulger gene: STIM1 was added gene: STIM1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: STIM1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: STIM1 were set to 23332920 Phenotypes for gene: STIM1 were set to TUBULAR-AGGREGATE MYOPATHY 160565 Mode of pathogenicity for gene: STIM1 was set to Other - please provide details in the comments |
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DDG2P v0.1 | STIL |
Rebecca Foulger gene: STIL was added gene: STIL was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: STIL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: STIL were set to 19215732 Phenotypes for gene: STIL were set to MICROCEPHALY PRIMARY TYPE 7 612703 |
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DDG2P v0.1 | STAT5B |
Rebecca Foulger gene: STAT5B was added gene: STAT5B was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: STAT5B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: STAT5B were set to 13679528 Phenotypes for gene: STAT5B were set to GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY 245590 |
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DDG2P v0.1 | STAT2 |
Rebecca Foulger gene: STAT2 was added gene: STAT2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: STAT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: STAT2 were set to 26408653; 26122121 Phenotypes for gene: STAT2 were set to Viral induced severe multiorgan dysfunction associated with impaired mitochondrial fission |
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DDG2P v0.1 | STAR |
Rebecca Foulger gene: STAR was added gene: STAR was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: STAR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: STAR were set to 15546900; 8634702; 16968793; 14764819; 10566637; 9141542; 7892608; 8948562; 10323391 Phenotypes for gene: STAR were set to CHOLESTEROL DESMOLASE-DEFICIENT CONGENITAL ADRENAL HYPERPLASIA 201710 |
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DDG2P v0.1 | STAMBP |
Rebecca Foulger gene: STAMBP was added gene: STAMBP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: STAMBP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: STAMBP were set to 23542699 Phenotypes for gene: STAMBP were set to MICROCEPHALYÐCAPILLARY MALFORMATION (MIC-CAP) SYNDROME |
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DDG2P v0.1 | STAG2 |
Rebecca Foulger gene: STAG2 was added gene: STAG2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: STAG2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: STAG2 were set to 30158690; 29263825; 28296084 Phenotypes for gene: STAG2 were set to STAG2-related developmental delay with microcephaly and congenital anomalies |
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DDG2P v0.1 | STAG1 |
Rebecca Foulger gene: STAG1 was added gene: STAG1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: STAG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: STAG1 were set to 30158690; 28119487 Phenotypes for gene: STAG1 were set to STAG1 syndromic intellectual disability |
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DDG2P v0.1 | ST3GAL5 |
Rebecca Foulger gene: ST3GAL5 was added gene: ST3GAL5 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: ST3GAL5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ST3GAL5 were set to AMISH INFANTILE EPILEPSY SYNDROME 319543 |
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DDG2P v0.1 | ST3GAL3 |
Rebecca Foulger gene: ST3GAL3 was added gene: ST3GAL3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: ST3GAL3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ST3GAL3 were set to 21907012; 17120046 Phenotypes for gene: ST3GAL3 were set to MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12 611090 Mode of pathogenicity for gene: ST3GAL3 was set to Other - please provide details in the comments |
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DDG2P v0.1 | ST14 |
Rebecca Foulger gene: ST14 was added gene: ST14 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: ST14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ST14 were set to 18445049; 17273967 Phenotypes for gene: ST14 were set to ICHTHYOSIS AUTOSOMAL RECESSIVE WITH HYPOTRICHOSIS 610765 Mode of pathogenicity for gene: ST14 was set to Other - please provide details in the comments |
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DDG2P v0.1 | SRY |
Rebecca Foulger gene: SRY was added gene: SRY was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SRY was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: SRY were set to 1619028; 12107262; 9443877; 2247149; 1339396; 1639410; 2247151; 1956279; 10852465; 1570829; 8105086; 7987333; 7985018; 9150734; 9521592; 1483689 Phenotypes for gene: SRY were set to 46XY SEX REVERSAL 1 400044 |
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DDG2P v0.1 | SRPX2 |
Rebecca Foulger gene: SRPX2 was added gene: SRPX2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: SRPX2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: SRPX2 were set to 16497722 Phenotypes for gene: SRPX2 were set to ROLANDIC EPILEPSY WITH SPEECH DYSPRAXIA AND MENTAL RETARDATION X-LINKED 300643 Mode of pathogenicity for gene: SRPX2 was set to Other - please provide details in the comments |
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DDG2P v0.1 | SRP54 |
Rebecca Foulger gene: SRP54 was added gene: SRP54 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SRP54 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SRP54 were set to 28972538 Phenotypes for gene: SRP54 were set to Syndromic neutropenia with Shwachman-Diamond-like features Mode of pathogenicity for gene: SRP54 was set to Other - please provide details in the comments |
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DDG2P v0.1 | SRGAP3 |
Rebecca Foulger gene: SRGAP3 was added gene: SRGAP3 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: SRGAP3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SRGAP3 were set to 12195014 Phenotypes for gene: SRGAP3 were set to SLIT-ROBO RHO GTPASE-ACTIVATING PROTEIN 3 606525 |
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DDG2P v0.1 | SRD5A3 |
Rebecca Foulger gene: SRD5A3 was added gene: SRD5A3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SRD5A3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SRD5A3 were set to 20637498; 18271001 Phenotypes for gene: SRD5A3 were set to CONGENITAL DISORDERS OF GLYCOSYLATION 612379 |
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DDG2P v0.1 | SRCAP |
Rebecca Foulger gene: SRCAP was added gene: SRCAP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SRCAP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SRCAP were set to 20358590; 22265015 Phenotypes for gene: SRCAP were set to FLOATING-HARBOR SYNDROME 136140 Mode of pathogenicity for gene: SRCAP was set to Other - please provide details in the comments |
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DDG2P v0.1 | SPTLC2 |
Rebecca Foulger gene: SPTLC2 was added gene: SPTLC2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SPTLC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SPTLC2 were set to NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC 613640 Mode of pathogenicity for gene: SPTLC2 was set to Other - please provide details in the comments |
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DDG2P v0.1 | SPTAN1 |
Rebecca Foulger gene: SPTAN1 was added gene: SPTAN1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SPTAN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SPTAN1 were set to 22258530; 20493457 Phenotypes for gene: SPTAN1 were set to EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 5 613477 Mode of pathogenicity for gene: SPTAN1 was set to Other - please provide details in the comments |
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DDG2P v0.1 | SPRTN |
Rebecca Foulger gene: SPRTN was added gene: SPRTN was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: SPRTN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SPRTN were set to PROGEROID SYNDROME Mode of pathogenicity for gene: SPRTN was set to Other - please provide details in the comments |
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DDG2P v0.1 | SPRED1 |
Rebecca Foulger gene: SPRED1 was added gene: SPRED1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SPRED1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SPRED1 were set to 19366998; 17704776; 21649642; 19443465 Phenotypes for gene: SPRED1 were set to LEGIUS SYNDROME 611431 |
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DDG2P v0.1 | SPR |
Rebecca Foulger gene: SPR was added gene: SPR was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SPR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPR were set to 11443547 Phenotypes for gene: SPR were set to DOPA-RESPONSIVE DYSTONIA DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY 612716 |
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DDG2P v0.1 | SPG11 |
Rebecca Foulger gene: SPG11 was added gene: SPG11 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SPG11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPG11 were set to 17717710; 19194956; 17322883; 18067136 Phenotypes for gene: SPG11 were set to SPASTIC PARAPLEGIA-11 604360 |
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DDG2P v0.1 | SPEG |
Rebecca Foulger gene: SPEG was added gene: SPEG was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SPEG was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPEG were set to 25087613 Phenotypes for gene: SPEG were set to CENTRONUCLEAR MYOPATHY WITH DILATED CARDIOMYOPATHY 615959 |
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DDG2P v0.1 | SPECC1L |
Rebecca Foulger gene: SPECC1L was added gene: SPECC1L was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SPECC1L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SPECC1L were set to 2541274; 21703590 Phenotypes for gene: SPECC1L were set to FACIAL CLEFTING, OBLIQUE, 1 600251 Mode of pathogenicity for gene: SPECC1L was set to Other - please provide details in the comments |
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DDG2P v0.1 | SPATA5 |
Rebecca Foulger gene: SPATA5 was added gene: SPATA5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SPATA5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPATA5 were set to 26299366 Phenotypes for gene: SPATA5 were set to EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME 616577 |
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DDG2P v0.1 | SPARC |
Rebecca Foulger gene: SPARC was added gene: SPARC was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SPARC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPARC were set to 26027498 Phenotypes for gene: SPARC were set to OSTEOGENESIS IMPERFECTA, TYPE XVII 616507 Mode of pathogenicity for gene: SPARC was set to Other - please provide details in the comments |
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DDG2P v0.1 | SPAG1 |
Rebecca Foulger gene: SPAG1 was added gene: SPAG1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SPAG1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPAG1 were set to 24055112 Phenotypes for gene: SPAG1 were set to PRIMARY CILIARY DYSKINESIA ASSOCIATED WITH DEFECTIVE OUTER AND INNER DYNEIN ARMS. |
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DDG2P v0.1 | SOX9 |
Rebecca Foulger gene: SOX9 was added gene: SOX9 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SOX9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SOX9 were set to PIERRE ROBIN SEQUENCE |
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DDG2P v0.1 | SOX5 |
Rebecca Foulger gene: SOX5 was added gene: SOX5 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SOX5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SOX5 were set to 22290657 Phenotypes for gene: SOX5 were set to 12P12.5 INTRAGENIC DELETIONS ASSOCIATED WITH INTELLECTUAL DISABILITY |
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DDG2P v0.1 | SOX3 |
Rebecca Foulger gene: SOX3 was added gene: SOX3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SOX3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: SOX3 were set to SEX REVERSAL TYPE 3 300833 |
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DDG2P v0.1 | SOX2 |
Rebecca Foulger gene: SOX2 was added gene: SOX2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SOX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SOX2 were set to AEG SYNDROME |
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DDG2P v0.1 | SOX17 |
Rebecca Foulger gene: SOX17 was added gene: SOX17 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SOX17 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SOX17 were set to 20960469 Phenotypes for gene: SOX17 were set to VESICOURETERAL REFLUX TYPE 3 613674 Mode of pathogenicity for gene: SOX17 was set to Other - please provide details in the comments |
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DDG2P v0.1 | SOX11 |
Rebecca Foulger gene: SOX11 was added gene: SOX11 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SOX11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SOX11 were set to 24886874; 26543203 Phenotypes for gene: SOX11 were set to MENTAL RETARDATION, AUTOSOMAL DOMINANT, 27 615866 Mode of pathogenicity for gene: SOX11 was set to Other - please provide details in the comments |
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DDG2P v0.1 | SOX10 |
Rebecca Foulger gene: SOX10 was added gene: SOX10 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SOX10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SOX10 were set to 19764030; 10482261; 10762540; 11026454; 12447940 Phenotypes for gene: SOX10 were set to PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATING LEUKODYSTROPHY, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE 609136 |
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DDG2P v0.1 | SOS1 |
Rebecca Foulger gene: SOS1 was added gene: SOS1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SOS1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SOS1 were set to 19438935; 17143285; 18925667 Phenotypes for gene: SOS1 were set to NOONAN SYNDROME 4 610733 Mode of pathogenicity for gene: SOS1 was set to Other - please provide details in the comments |
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DDG2P v0.1 | SON |
Rebecca Foulger gene: SON was added gene: SON was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SON was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SON were set to 27545680; 27545676 Phenotypes for gene: SON were set to Intellectual Disability, Congenital Malformations, and Failure to Thrive |
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DDG2P v0.1 | SOBP |
Rebecca Foulger gene: SOBP was added gene: SOBP was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: SOBP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SOBP were set to 21035105 Phenotypes for gene: SOBP were set to MENTAL RETARDATION-ANTERIOR MAXILLARY PROTRUSION-STRABISMUS 613671 |
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DDG2P v0.1 | SNX3 |
Rebecca Foulger gene: SNX3 was added gene: SNX3 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: SNX3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SNX3 were set to 12471201 Phenotypes for gene: SNX3 were set to MICROPHTHALMIA SYNDROMIC TYPE 8 601349 |
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DDG2P v0.1 | SNX14 |
Rebecca Foulger gene: SNX14 was added gene: SNX14 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SNX14 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SNX14 were set to ID, MACROCEPHALY AND CEREBELLAR HYPOPLASIA |
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DDG2P v0.1 | SNRPE |
Rebecca Foulger gene: SNRPE was added gene: SNRPE was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SNRPE was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SNRPE were set to 23246290; 9621144 Phenotypes for gene: SNRPE were set to AUTOSOMAL-DOMINANT HYPOTRICHOSIS SIMPLEX 615059 Mode of pathogenicity for gene: SNRPE was set to Other - please provide details in the comments |
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DDG2P v0.1 | SNRPB |
Rebecca Foulger gene: SNRPB was added gene: SNRPB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SNRPB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SNRPB were set to CEREBRO-COSTO-MANDIBULAR SYNDROME |
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DDG2P v0.1 | SNORD118 |
Rebecca Foulger gene: SNORD118 was added gene: SNORD118 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SNORD118 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SNORD118 were set to 27793341; 27571260 Phenotypes for gene: SNORD118 were set to Leukoencephalopathy with cerebral calcification & cysts |
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DDG2P v0.1 | SNIP1 |
Rebecca Foulger gene: SNIP1 was added gene: SNIP1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: SNIP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SNIP1 were set to 22279524 Phenotypes for gene: SNIP1 were set to SYMPTOMATIC EPILEPSY AND SKULL DYSPLASIA 614501 Mode of pathogenicity for gene: SNIP1 was set to Other - please provide details in the comments |
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DDG2P v0.1 | SNAP29 |
Rebecca Foulger gene: SNAP29 was added gene: SNAP29 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SNAP29 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SNAP29 were set to 15968592; 21073448 Phenotypes for gene: SNAP29 were set to CEDNIK SYNDROME 609528 |
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DDG2P v0.1 | SNAP25 |
Rebecca Foulger gene: SNAP25 was added gene: SNAP25 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SNAP25 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SNAP25 were set to 29100083 Phenotypes for gene: SNAP25 were set to Epilepsy and intellectual disability Mode of pathogenicity for gene: SNAP25 was set to Other - please provide details in the comments |
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DDG2P v0.1 | SMS |
Rebecca Foulger gene: SMS was added gene: SMS was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SMS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: SMS were set to 19206178; 18550699; 5823961 Phenotypes for gene: SMS were set to SNYDER-ROBINSON SYNDROME 309583 |
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DDG2P v0.1 | SMPD1 |
Rebecca Foulger gene: SMPD1 was added gene: SMPD1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SMPD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SMPD1 were set to 1301192; 1391960; 19405096; 8051942; 8401540; 2023926; 1718266 Phenotypes for gene: SMPD1 were set to NIEMANN-PICK DISEASE TYPE A 257200 |
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DDG2P v0.1 | SMOC2 |
Rebecca Foulger gene: SMOC2 was added gene: SMOC2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SMOC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SMOC2 were set to 22152679 Phenotypes for gene: SMOC2 were set to DENTIN DYSPLASIA, TYPE I, WITH MICRODONTIA AND MISSHAPEN TEETH 125400 |
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DDG2P v0.1 | SMOC1 |
Rebecca Foulger gene: SMOC1 was added gene: SMOC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SMOC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SMOC1 were set to 19208380; 21194678 Phenotypes for gene: SMOC1 were set to OPHTHALMOACROMELIC SYNDROME 206920 |
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DDG2P v0.1 | SMO |
Rebecca Foulger gene: SMO was added gene: SMO was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SMO was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SMO were set to Curry-Jones Syndrome Mode of pathogenicity for gene: SMO was set to Other - please provide details in the comments |
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DDG2P v0.1 | SMG9 |
Rebecca Foulger gene: SMG9 was added gene: SMG9 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SMG9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SMG9 were set to 27018474 Phenotypes for gene: SMG9 were set to SMG9 Multiple Congenital Anomaly Syndrome |
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DDG2P v0.1 | SMCHD1 |
Rebecca Foulger gene: SMCHD1 was added gene: SMCHD1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SMCHD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SMCHD1 were set to 28067909; 28067911 Phenotypes for gene: SMCHD1 were set to Isolated Arhinia/Bosma Arhinia syndrome Mode of pathogenicity for gene: SMCHD1 was set to Other - please provide details in the comments |
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DDG2P v0.1 | SMC3 |
Rebecca Foulger gene: SMC3 was added gene: SMC3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SMC3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SMC3 were set to 25125236; 25655089 Phenotypes for gene: SMC3 were set to CORNELIA DE LANGE SYNDROME TYPE 3 610759 Mode of pathogenicity for gene: SMC3 was set to Other - please provide details in the comments |
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DDG2P v0.1 | SMC1A |
Rebecca Foulger gene: SMC1A was added gene: SMC1A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SMC1A was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: SMC1A were set to 20635401; 17273969; 22106055; 16604071 Phenotypes for gene: SMC1A were set to CORNELIA DE LANGE SYNDROME TYPE 2 300590 |
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DDG2P v0.1 | SMARCE1 |
Rebecca Foulger gene: SMARCE1 was added gene: SMARCE1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SMARCE1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SMARCE1 were set to 22426308 Phenotypes for gene: SMARCE1 were set to COFFIN SIRIS 135900 Mode of pathogenicity for gene: SMARCE1 was set to Other - please provide details in the comments |
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DDG2P v0.1 | SMARCB1 |
Rebecca Foulger gene: SMARCB1 was added gene: SMARCB1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SMARCB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SMARCB1 were set to 9671307; 10739763; 10521299 Phenotypes for gene: SMARCB1 were set to RHABDOID PREDISPOSITION SYNDROME 1 609322 |
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DDG2P v0.1 | SMARCAL1 |
Rebecca Foulger gene: SMARCAL1 was added gene: SMARCAL1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SMARCAL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SMARCAL1 were set to 11799392; 15523612 Phenotypes for gene: SMARCAL1 were set to SCHIMKE IMMUNOOSSEOUS DYSPLASIA 242900 |
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DDG2P v0.1 | SMARCA4 |
Rebecca Foulger gene: SMARCA4 was added gene: SMARCA4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SMARCA4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SMARCA4 were set to COFFIN SIRIS 135900 |
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DDG2P v0.1 | SMARCA2 |
Rebecca Foulger gene: SMARCA2 was added gene: SMARCA2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SMARCA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SMARCA2 were set to 22426308 Phenotypes for gene: SMARCA2 were set to COFFIN SIRIS 135900 Mode of pathogenicity for gene: SMARCA2 was set to Other - please provide details in the comments |
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DDG2P v0.1 | SMAD6 |
Rebecca Foulger gene: SMAD6 was added gene: SMAD6 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SMAD6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SMAD6 were set to 27606499; 28808027 Phenotypes for gene: SMAD6 were set to Non-syndromic craniosynostosis |
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DDG2P v0.1 | SMAD4 |
Rebecca Foulger gene: SMAD4 was added gene: SMAD4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SMAD4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SMAD4 were set to MYHRE SYNDROME |
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DDG2P v0.1 | SMAD3 |
Rebecca Foulger gene: SMAD3 was added gene: SMAD3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SMAD3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SMAD3 were set to SMAD3-RELATED LOEYS-DIETZ SYNDROME 319643 |
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DDG2P v0.1 | SMAD2 |
Rebecca Foulger gene: SMAD2 was added gene: SMAD2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: SMAD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SMAD2 were set to 23665959 Phenotypes for gene: SMAD2 were set to CONGENITAL HEART DISEASE |
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DDG2P v0.1 | SLX4 |
Rebecca Foulger gene: SLX4 was added gene: SLX4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLX4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLX4 were set to 21240277; 21240275 Phenotypes for gene: SLX4 were set to FANCONI ANEMIA COMPLEMENTATION GROUP P 613951 |
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DDG2P v0.1 | SLC9A9 |
Rebecca Foulger gene: SLC9A9 was added gene: SLC9A9 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: SLC9A9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SLC9A9 were set to SUSCEPTIBILITY TO AUTISM TYPE 16 613410 |
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DDG2P v0.1 | SLC9A6 |
Rebecca Foulger gene: SLC9A6 was added gene: SLC9A6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC9A6 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: SLC9A6 were set to 20395263; 10528855; 18342287 Phenotypes for gene: SLC9A6 were set to MENTAL RETARDATION SYNDROMIC X-LINKED CHRISTIANSON TYPE 300243 |
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DDG2P v0.1 | SLC6A9 |
Rebecca Foulger gene: SLC6A9 was added gene: SLC6A9 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SLC6A9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC6A9 were set to 27773429 Phenotypes for gene: SLC6A9 were set to Glycine Encephalopathy with Arthrogryposis |
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DDG2P v0.1 | SLC6A8 |
Rebecca Foulger gene: SLC6A8 was added gene: SLC6A8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC6A8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: SLC6A8 were set to 11326334; 16086185; 15154114; 12210795; 16738945; 11898126; 17101918 Phenotypes for gene: SLC6A8 were set to X-LINKED CREATINE DEFICIENCY SYNDROME 300352 |
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DDG2P v0.1 | SLC6A5 |
Rebecca Foulger gene: SLC6A5 was added gene: SLC6A5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC6A5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC6A5 were set to HYPEREKPLEXIA 149400 |
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DDG2P v0.1 | SLC6A3 |
Rebecca Foulger gene: SLC6A3 was added gene: SLC6A3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC6A3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC6A3 were set to PARKINSONISM-DYSTONIA, INFANTILE 319029 |
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DDG2P v0.1 | SLC6A17 |
Rebecca Foulger gene: SLC6A17 was added gene: SLC6A17 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SLC6A17 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC6A17 were set to 25704603 Phenotypes for gene: SLC6A17 were set to MENTAL RETARDATION, AUTOSOMAL RECESSIVE 48 616269 Mode of pathogenicity for gene: SLC6A17 was set to Other - please provide details in the comments |
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DDG2P v0.1 | SLC6A1 |
Rebecca Foulger gene: SLC6A1 was added gene: SLC6A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC6A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SLC6A1 were set to 25865495 Phenotypes for gene: SLC6A1 were set to EPILEPSY WITH MYOCLONIC-ATONIC SEIZURES |
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DDG2P v0.1 | SLC5A7 |
Rebecca Foulger gene: SLC5A7 was added gene: SLC5A7 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SLC5A7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC5A7 were set to 27569547 Phenotypes for gene: SLC5A7 were set to Congenital Myasthenic Syndrome with Episodic Apnea Mode of pathogenicity for gene: SLC5A7 was set to Other - please provide details in the comments |
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DDG2P v0.1 | SLC5A5 |
Rebecca Foulger gene: SLC5A5 was added gene: SLC5A5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC5A5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC5A5 were set to 9388506; 9745458; 3998954; 9486973; 3451231; 9171822 Phenotypes for gene: SLC5A5 were set to THYROID HORMONOGENESIS DEFECT I 274400 |
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DDG2P v0.1 | SLC52A3 |
Rebecca Foulger gene: SLC52A3 was added gene: SLC52A3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC52A3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC52A3 were set to 20206331; 20920669; 16122634; 21110228 Phenotypes for gene: SLC52A3 were set to BROWN-VIALETTO-VAN LAERE SYNDROME 211530 |
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DDG2P v0.1 | SLC52A2 |
Rebecca Foulger gene: SLC52A2 was added gene: SLC52A2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC52A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC52A2 were set to 22740598; 24253200 Phenotypes for gene: SLC52A2 were set to Brown-Vialetto-Van Laere syndrome 2 |
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DDG2P v0.1 | SLC4A4 |
Rebecca Foulger gene: SLC4A4 was added gene: SLC4A4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC4A4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC4A4 were set to 10545938; 11274232 Phenotypes for gene: SLC4A4 were set to PROXIMAL RENAL TUBULAR ACIDOSIS WITH OCULAR ABNORMALITIES 604278 |
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DDG2P v0.1 | SLC4A11 |
Rebecca Foulger gene: SLC4A11 was added gene: SLC4A11 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC4A11 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC4A11 were set to CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4 613268 |
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DDG2P v0.1 | SLC4A1 |
Rebecca Foulger gene: SLC4A1 was added gene: SLC4A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC4A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: SLC4A1 were set to RENAL TUBULAR ACIDOSIS, DISTAL, AD 179800 Mode of pathogenicity for gene: SLC4A1 was set to Other - please provide details in the comments |
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DDG2P v0.1 | SLC46A1 |
Rebecca Foulger gene: SLC46A1 was added gene: SLC46A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC46A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC46A1 were set to 17446347; 20795774; 18559978; 11807405; 21333572; 11804211 Phenotypes for gene: SLC46A1 were set to HEREDITARY FOLATE MALABSORPTION 229050 |
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DDG2P v0.1 | SLC45A1 |
Rebecca Foulger gene: SLC45A1 was added gene: SLC45A1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SLC45A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC45A1 were set to 28434495 Phenotypes for gene: SLC45A1 were set to Intellectual disability and epilepsy Mode of pathogenicity for gene: SLC45A1 was set to Other - please provide details in the comments |
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DDG2P v0.1 | SLC39A8 |
Rebecca Foulger gene: SLC39A8 was added gene: SLC39A8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC39A8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC39A8 were set to 26637978; 26637979 Phenotypes for gene: SLC39A8 were set to Intellectual Disability with Cerebellar Atrophy Mode of pathogenicity for gene: SLC39A8 was set to Other - please provide details in the comments |
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DDG2P v0.1 | SLC39A13 |
Rebecca Foulger gene: SLC39A13 was added gene: SLC39A13 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC39A13 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC39A13 were set to SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH ABNORMAL DENTITION 601668 |
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DDG2P v0.1 | SLC35D1 |
Rebecca Foulger gene: SLC35D1 was added gene: SLC35D1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC35D1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC35D1 were set to 11200994; 19508970; 17952091 Phenotypes for gene: SLC35D1 were set to SCHNECKENBECKEN DYSPLASIA 269250 |
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DDG2P v0.1 | SLC35C1 |
Rebecca Foulger gene: SLC35C1 was added gene: SLC35C1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC35C1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC35C1 were set to 11326279; 11326280 Phenotypes for gene: SLC35C1 were set to CONGENITAL DISORDER OF GLYCOSYLATION TYPE 2C 266265 |
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DDG2P v0.1 | SLC35A2 |
Rebecca Foulger gene: SLC35A2 was added gene: SLC35A2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC35A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SLC35A2 were set to CONGENITAL DISORDER OF GLYCOSYLATION |
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DDG2P v0.1 | SLC35A1 |
Rebecca Foulger gene: SLC35A1 was added gene: SLC35A1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SLC35A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC35A1 were set to 15576474 Phenotypes for gene: SLC35A1 were set to CONGENITAL DISORDERS OF GLYCOSYLATION 612379 |
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DDG2P v0.1 | SLC33A1 |
Rebecca Foulger gene: SLC33A1 was added gene: SLC33A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC33A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC33A1 were set to AUTOSOMAL-RECESSIVE DISORDER WITH CONGENITAL CATARACTS, HEARING LOSS, AND LOW SERUM COPPER AND CERULOPLASMIN |
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DDG2P v0.1 | SLC31A1 |
Rebecca Foulger gene: SLC31A1 was added gene: SLC31A1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: SLC31A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC31A1 were set to 21937992 Phenotypes for gene: SLC31A1 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION Mode of pathogenicity for gene: SLC31A1 was set to Other - please provide details in the comments |
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DDG2P v0.1 | SLC2A2 |
Rebecca Foulger gene: SLC2A2 was added gene: SLC2A2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC2A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC2A2 were set to 9354798 Phenotypes for gene: SLC2A2 were set to FANCONI-BICKEL SYNDROME 269871 |
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DDG2P v0.1 | SLC2A10 |
Rebecca Foulger gene: SLC2A10 was added gene: SLC2A10 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC2A10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC2A10 were set to 16550171; 17935213; 14569121 Phenotypes for gene: SLC2A10 were set to ARTERIAL TORTUOSITY SYNDROME 208050 |
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DDG2P v0.1 | SLC2A1 |
Rebecca Foulger gene: SLC2A1 was added gene: SLC2A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC2A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SLC2A1 were set to 10980529; 9462754; 20221955; 18606970; 11603379; 1714544; 11136715 Phenotypes for gene: SLC2A1 were set to GLUT1 DEFICIENCY SYNDROME TYPE 1 606777 |
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DDG2P v0.1 | SLC27A4 |
Rebecca Foulger gene: SLC27A4 was added gene: SLC27A4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC27A4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC27A4 were set to ICHTHYOSIS PREMATURITY SYNDROME 608649 |
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DDG2P v0.1 | SLC26A2 |
Rebecca Foulger gene: SLC26A2 was added gene: SLC26A2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC26A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC26A2 were set to 8528239 Phenotypes for gene: SLC26A2 were set to ACHONDROGENESIS TYPE 1B 600972 |
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DDG2P v0.1 | SLC25A4 |
Rebecca Foulger gene: SLC25A4 was added gene: SLC25A4 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SLC25A4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SLC25A4 were set to 27693233 Phenotypes for gene: SLC25A4 were set to Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number Mode of pathogenicity for gene: SLC25A4 was set to Other - please provide details in the comments |
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DDG2P v0.1 | SLC25A38 |
Rebecca Foulger gene: SLC25A38 was added gene: SLC25A38 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC25A38 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A38 were set to 19412178 Phenotypes for gene: SLC25A38 were set to ANEMIA, SIDEROBLASTIC, PYRIDOXINE-REFRACTORY, AUTOSOMAL RECESSIVE 205950 |
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DDG2P v0.1 | SLC25A26 |
Rebecca Foulger gene: SLC25A26 was added gene: SLC25A26 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC25A26 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A26 were set to 26522469 Phenotypes for gene: SLC25A26 were set to INTRA-MITOCHONDRIAL METHYLATION DEFICIENCY |
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DDG2P v0.1 | SLC25A24 |
Rebecca Foulger gene: SLC25A24 was added gene: SLC25A24 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC25A24 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SLC25A24 were set to 29100094; 29100093 Phenotypes for gene: SLC25A24 were set to Gorlin-Chaudhry-Moss syndrome (GCMS); Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction Mode of pathogenicity for gene: SLC25A24 was set to Other - please provide details in the comments |
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DDG2P v0.1 | SLC25A22 |
Rebecca Foulger gene: SLC25A22 was added gene: SLC25A22 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SLC25A22 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC25A22 were set to EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 3 319213 Mode of pathogenicity for gene: SLC25A22 was set to Other - please provide details in the comments |
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DDG2P v0.1 | SLC25A20 |
Rebecca Foulger gene: SLC25A20 was added gene: SLC25A20 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC25A20 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A20 were set to 9399886; 12859414; 10384384; 10697964; 9686371 Phenotypes for gene: SLC25A20 were set to CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY 212138 |
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DDG2P v0.1 | SLC25A19 |
Rebecca Foulger gene: SLC25A19 was added gene: SLC25A19 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SLC25A19 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A19 were set to 12185364 Phenotypes for gene: SLC25A19 were set to AMISH LETHAL MICROCEPHALY 216535 Mode of pathogenicity for gene: SLC25A19 was set to Other - please provide details in the comments |
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DDG2P v0.1 | SLC25A15 |
Rebecca Foulger gene: SLC25A15 was added gene: SLC25A15 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC25A15 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A15 were set to 10369256; 16940241; 11355015; 19242930; 11552031 Phenotypes for gene: SLC25A15 were set to HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME 238970 |
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DDG2P v0.1 | SLC24A4 |
Rebecca Foulger gene: SLC24A4 was added gene: SLC24A4 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SLC24A4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC24A4 were set to 23375655 Phenotypes for gene: SLC24A4 were set to AMELOGENESIS IMPERFECTA. |
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DDG2P v0.1 | SLC24A1 |
Rebecca Foulger gene: SLC24A1 was added gene: SLC24A1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: SLC24A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC24A1 were set to 20850105 Phenotypes for gene: SLC24A1 were set to NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1D 613830 |
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DDG2P v0.1 | SLC22A5 |
Rebecca Foulger gene: SLC22A5 was added gene: SLC22A5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC22A5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC22A5 were set to 9916797; 10051646; 2235122; 11058897; 20027113; 9634512; 10425211; 9700603; 15714519; 10480371; 3974805 Phenotypes for gene: SLC22A5 were set to SYSTEMIC PRIMARY CARNITINE DEFICIENCY 212140 |
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DDG2P v0.1 | SLC1A2 |
Rebecca Foulger gene: SLC1A2 was added gene: SLC1A2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SLC1A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SLC1A2 were set to 28777935; 27476654 Phenotypes for gene: SLC1A2 were set to EPILEPTIC ENCEPHALOPATHY Mode of pathogenicity for gene: SLC1A2 was set to Other - please provide details in the comments |
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DDG2P v0.1 | SLC19A3 |
Rebecca Foulger gene: SLC19A3 was added gene: SLC19A3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC19A3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC19A3 were set to 19387023; 15871139; 20065143 Phenotypes for gene: SLC19A3 were set to THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 607483 |
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DDG2P v0.1 | SLC17A5 |
Rebecca Foulger gene: SLC17A5 was added gene: SLC17A5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC17A5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC17A5 were set to 10581036; 10947946 Phenotypes for gene: SLC17A5 were set to SALLA DISEASE 604369 |
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DDG2P v0.1 | SLC16A2 |
Rebecca Foulger gene: SLC16A2 was added gene: SLC16A2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC16A2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: SLC16A2 were set to 15488219; 1605231; 8484404; 14661163; 15889350 Phenotypes for gene: SLC16A2 were set to MCT8 (SLC16A2)-SPECIFIC THYROID HORMONE CELL TRANSPORTER DEFICIENCY 300523 |
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DDG2P v0.1 | SLC13A5 |
Rebecca Foulger gene: SLC13A5 was added gene: SLC13A5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC13A5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC13A5 were set to 24995870; 26384929 Phenotypes for gene: SLC13A5 were set to EPILEPTIC ENCEPHALOPATHY WITH SEIZURE ONSET IN THE FIRST DAYS OF LIFE |
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DDG2P v0.1 | SLC12A6 |
Rebecca Foulger gene: SLC12A6 was added gene: SLC12A6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC12A6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC12A6 were set to 17893295; 16606917; 21628467; 12368912 Phenotypes for gene: SLC12A6 were set to AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY 218000 |
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DDG2P v0.1 | SLC12A5 |
Rebecca Foulger gene: SLC12A5 was added gene: SLC12A5 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: SLC12A5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SLC12A5 were set to 24668262 Phenotypes for gene: SLC12A5 were set to FEBRILE SEIZURES Mode of pathogenicity for gene: SLC12A5 was set to Other - please provide details in the comments |
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DDG2P v0.1 | SKIV2L |
Rebecca Foulger gene: SKIV2L was added gene: SKIV2L was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SKIV2L was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SKIV2L were set to TRICHOHEPATOENTERIC SYNDROME 2 615602 |
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DDG2P v0.1 | SKI |
Rebecca Foulger gene: SKI was added gene: SKI was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SKI was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SKI were set to SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME 182212 Mode of pathogenicity for gene: SKI was set to Other - please provide details in the comments |
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DDG2P v0.1 | SIX6 |
Rebecca Foulger gene: SIX6 was added gene: SIX6 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: SIX6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SIX6 were set to 15266624 Phenotypes for gene: SIX6 were set to MICROPHTHALMIA, ISOLATED, WITH CATARACT 2 212550 Mode of pathogenicity for gene: SIX6 was set to Other - please provide details in the comments |
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DDG2P v0.1 | SIX5 |
Rebecca Foulger gene: SIX5 was added gene: SIX5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SIX5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SIX5 were set to 17357085 Phenotypes for gene: SIX5 were set to BRANCHIOOTORENAL SYNDROME TYPE 2 610896 Mode of pathogenicity for gene: SIX5 was set to Other - please provide details in the comments |
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DDG2P v0.1 | SIX3 |
Rebecca Foulger gene: SIX3 was added gene: SIX3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SIX3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SIX3 were set to 19346217; 10369266; 17001667; 19353631; 11039582 Phenotypes for gene: SIX3 were set to HOLOPROSENCEPHALY 609637 |
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DDG2P v0.1 | SIX1 |
Rebecca Foulger gene: SIX1 was added gene: SIX1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SIX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SIX1 were set to 12843324; 15141091; 17637804 Phenotypes for gene: SIX1 were set to BRANCHIOOTIC SYNDROME TYPE 3 608389 |
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DDG2P v0.1 | SIN3A |
Rebecca Foulger gene: SIN3A was added gene: SIN3A was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SIN3A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SIN3A were set to 27399968 Phenotypes for gene: SIN3A were set to SYNDROMIC INTELLECTUAL DISABILITY 612100 |
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DDG2P v0.1 | SIL1 |
Rebecca Foulger gene: SIL1 was added gene: SIL1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SIL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SIL1 were set to 16282978; 18285827; 17026626; 20111056; 16282977 Phenotypes for gene: SIL1 were set to MARINESCO-SJOEGREN SYNDROME 248800 |
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DDG2P v0.1 | SIK1 |
Rebecca Foulger gene: SIK1 was added gene: SIK1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SIK1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SIK1 were set to 25839329 Phenotypes for gene: SIK1 were set to NEONATAL EPILEPSY SPECTRUM Mode of pathogenicity for gene: SIK1 was set to Other - please provide details in the comments |
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DDG2P v0.1 | SHROOM3 |
Rebecca Foulger gene: SHROOM3 was added gene: SHROOM3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SHROOM3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SHROOM3 were set to 25805808 Phenotypes for gene: SHROOM3 were set to NEURAL TUBE DEFECT |
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DDG2P v0.1 | SHOX |
Rebecca Foulger gene: SHOX was added gene: SHOX was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SHOX was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SHOX were set to 17935511; 9590292; 11889214; 12116254 Phenotypes for gene: SHOX were set to LANGER MESOMELIC DYSPLASIA 249700 |
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DDG2P v0.1 | SHOC2 |
Rebecca Foulger gene: SHOC2 was added gene: SHOC2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SHOC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SHOC2 were set to 19684605 Phenotypes for gene: SHOC2 were set to NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR 607721 Mode of pathogenicity for gene: SHOC2 was set to Other - please provide details in the comments |
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DDG2P v0.1 | SHH |
Rebecca Foulger gene: SHH was added gene: SHH was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SHH was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SHH were set to TRIPHALANGEAL THUMB-POLYSYNDACTYLY SYNDROME 174500 |
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DDG2P v0.1 | SHANK3 |
Rebecca Foulger gene: SHANK3 was added gene: SHANK3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SHANK3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SHANK3 were set to 22892527; 17173049 Phenotypes for gene: SHANK3 were set to PHELAN-MCDERMID SYNDROME 606232 |
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DDG2P v0.1 | SHANK2 |
Rebecca Foulger gene: SHANK2 was added gene: SHANK2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SHANK2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SHANK2 were set to 20473310 Phenotypes for gene: SHANK2 were set to SUSCEPTIBILITY TO AUTISM TYPE 17 613436 |
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DDG2P v0.1 | SHANK1 |
Rebecca Foulger gene: SHANK1 was added gene: SHANK1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SHANK1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SHANK1 were set to AUTISM 209850 |
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DDG2P v0.1 | SH3PXD2B |
Rebecca Foulger gene: SH3PXD2B was added gene: SH3PXD2B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SH3PXD2B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SH3PXD2B were set to 20137777; 15523657; 7158646 Phenotypes for gene: SH3PXD2B were set to FRANK-TER HAAR SYNDROME 249420 |
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DDG2P v0.1 | SH3BP2 |
Rebecca Foulger gene: SH3BP2 was added gene: SH3BP2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: SH3BP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SH3BP2 were set to 11381256 Phenotypes for gene: SH3BP2 were set to Cherubism Mode of pathogenicity for gene: SH3BP2 was set to Other - please provide details in the comments |
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DDG2P v0.1 | SGSH |
Rebecca Foulger gene: SGSH was added gene: SGSH was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SGSH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SGSH were set to MUCOPOLYSACCHARIDOSIS TYPE 3A 252900 |
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DDG2P v0.1 | SF3B4 |
Rebecca Foulger gene: SF3B4 was added gene: SF3B4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SF3B4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SF3B4 were set to 22541558 Phenotypes for gene: SF3B4 were set to ACROFACIAL DYSOSTOSIS 1, NAGER TYPE 154400 |
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DDG2P v0.1 | SETD5 |
Rebecca Foulger gene: SETD5 was added gene: SETD5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SETD5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SETD5 were set to 24680889 Phenotypes for gene: SETD5 were set to MENTAL RETARDATION, AUTOSOMAL DOMINANT 23 615761 |
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DDG2P v0.1 | SETD2 |
Rebecca Foulger gene: SETD2 was added gene: SETD2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SETD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SETD2 were set to 24852293; 27317772 Phenotypes for gene: SETD2 were set to SETD2-associated Overgrowth Syndrome |
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DDG2P v0.1 | SETD1A |
Rebecca Foulger gene: SETD1A was added gene: SETD1A was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SETD1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SETD1A were set to INTELLECTUAL DISABILITY |
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DDG2P v0.1 | SETBP1 | Rebecca Foulger Added phenotypes DEVELOPMENTAL AND EXPRESSIVE LANGUAGE DELAY for gene: SETBP1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.1 | SETBP1 |
Rebecca Foulger gene: SETBP1 was added gene: SETBP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SETBP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SETBP1 were set to 20436468 Phenotypes for gene: SETBP1 were set to SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME 269150 |
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DDG2P v0.1 | SET |
Rebecca Foulger gene: SET was added gene: SET was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SET was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SET were set to 28135719 Phenotypes for gene: SET were set to SET syndrome |
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DDG2P v0.1 | SELENOI |
Rebecca Foulger gene: SELENOI was added gene: SELENOI was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SELENOI was set to Publications for gene: SELENOI were set to 28052917; 29500230 Phenotypes for gene: SELENOI were set to EPT1-related complex progressive hereditary spastic paraplegia |
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DDG2P v0.1 | SECISBP2 |
Rebecca Foulger gene: SECISBP2 was added gene: SECISBP2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SECISBP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SECISBP2 were set to 16228000 Phenotypes for gene: SECISBP2 were set to THYROID HORMONE METABOLISM, ABNORMAL 609698 |
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DDG2P v0.1 | SEC61A1 |
Rebecca Foulger gene: SEC61A1 was added gene: SEC61A1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: SEC61A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SEC61A1 were set to Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia Mode of pathogenicity for gene: SEC61A1 was set to Other - please provide details in the comments |
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DDG2P v0.1 | SEC24D |
Rebecca Foulger gene: SEC24D was added gene: SEC24D was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SEC24D was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SEC24D were set to 25683121 Phenotypes for gene: SEC24D were set to SYNDROMIC OSTEOGENESIS IMPERFECTA |
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DDG2P v0.1 | SEC23B |
Rebecca Foulger gene: SEC23B was added gene: SEC23B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SEC23B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SEC23B were set to 19561605; 19621418 Phenotypes for gene: SEC23B were set to ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II 224100 |
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DDG2P v0.1 | SEC23A |
Rebecca Foulger gene: SEC23A was added gene: SEC23A was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: SEC23A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SEC23A were set to 16980979 Phenotypes for gene: SEC23A were set to CRANIOLENTICULOSUTURAL DYSPLASIA 607812 Mode of pathogenicity for gene: SEC23A was set to Other - please provide details in the comments |
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DDG2P v0.1 | SDHAF1 |
Rebecca Foulger gene: SDHAF1 was added gene: SDHAF1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SDHAF1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SDHAF1 were set to MITOCHONDRIAL COMPLEX II DEFICIENCY 252011 Mode of pathogenicity for gene: SDHAF1 was set to Other - please provide details in the comments |
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DDG2P v0.1 | SDHA |
Rebecca Foulger gene: SDHA was added gene: SDHA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SDHA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SDHA were set to LEIGH SYNDROME 256000 Mode of pathogenicity for gene: SDHA was set to Other - please provide details in the comments |
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DDG2P v0.1 | SDCCAG8 |
Rebecca Foulger gene: SDCCAG8 was added gene: SDCCAG8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SDCCAG8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SDCCAG8 were set to 20835237 Phenotypes for gene: SDCCAG8 were set to SENIOR-LOKEN SYNDROME 7 613615 |
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DDG2P v0.1 | SCYL1 |
Rebecca Foulger gene: SCYL1 was added gene: SCYL1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SCYL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SCYL1 were set to 26581903 Phenotypes for gene: SCYL1 were set to Episodes of Liver Failure, Peripheral Neuropathy, Cerebellar Atrophy, and Ataxia |
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DDG2P v0.1 | SCRIB |
Rebecca Foulger gene: SCRIB was added gene: SCRIB was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: SCRIB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SCRIB were set to 24140112 Phenotypes for gene: SCRIB were set to 8Q24.3 DELETION-LIKE |
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DDG2P v0.1 | SCO2 |
Rebecca Foulger gene: SCO2 was added gene: SCO2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SCO2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SCO2 were set to 10545952; 10749987; 18924171; 14994243 Phenotypes for gene: SCO2 were set to FATAL INFANTILE CARDIOENCEPHALOMYOPATHY DUE TO CYTOCHROME C OXIDASE DEFICIENCY 604377 |
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DDG2P v0.1 | SCO1 |
Rebecca Foulger gene: SCO1 was added gene: SCO1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SCO1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SCO1 were set to MITOCHONDRIAL COMPLEX IV DEFICIENCY 220110 |
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DDG2P v0.1 | SCN8A |
Rebecca Foulger gene: SCN8A was added gene: SCN8A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SCN8A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SCN8A were set to 16236810 Phenotypes for gene: SCN8A were set to COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA 614306 |
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DDG2P v0.1 | SCN4A |
Rebecca Foulger gene: SCN4A was added gene: SCN4A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SCN4A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SCN4A were set to 16890191; 10851391; 10599760; 10944223; 11591859 Phenotypes for gene: SCN4A were set to HYPOKALEMIC PERIODIC PARALYSIS 613345 Mode of pathogenicity for gene: SCN4A was set to Other - please provide details in the comments |
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DDG2P v0.1 | SCN3A |
Rebecca Foulger gene: SCN3A was added gene: SCN3A was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SCN3A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SCN3A were set to 18242854; 24157691 Phenotypes for gene: SCN3A were set to Focal epilepsy Mode of pathogenicity for gene: SCN3A was set to Other - please provide details in the comments |
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DDG2P v0.1 | SCN2A |
Rebecca Foulger gene: SCN2A was added gene: SCN2A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SCN2A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SCN2A were set to NONSPECIFIC SEVERE ID |
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DDG2P v0.1 | SCN1B |
Rebecca Foulger gene: SCN1B was added gene: SCN1B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SCN1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SCN1B were set to 9697698 Phenotypes for gene: SCN1B were set to EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 1 604233 |
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DDG2P v0.1 | SCN1A |
Rebecca Foulger gene: SCN1A was added gene: SCN1A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SCN1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SCN1A were set to 11359211; 21753172; 16505326; 18680191; 17000989; 12566275; 21555645 Phenotypes for gene: SCN1A were set to SCN1A-RELATED SEIZURE DISORDERS 607208 |
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DDG2P v0.1 | SCN11A |
Rebecca Foulger gene: SCN11A was added gene: SCN11A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SCN11A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SCN11A were set to 24036948 Phenotypes for gene: SCN11A were set to CONGENITAL INABILITY TO EXPERIENCE PAIN Mode of pathogenicity for gene: SCN11A was set to Other - please provide details in the comments |
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DDG2P v0.1 | SCARF2 |
Rebecca Foulger gene: SCARF2 was added gene: SCARF2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SCARF2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SCARF2 were set to 21108395 Phenotypes for gene: SCARF2 were set to VAN DEN ENDE-GUPTA SYNDROME 600920 |
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DDG2P v0.1 | SCAPER |
Rebecca Foulger gene: SCAPER was added gene: SCAPER was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: SCAPER was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SCAPER were set to 21937992 Phenotypes for gene: SCAPER were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION |
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DDG2P v0.1 | SC5D |
Rebecca Foulger gene: SC5D was added gene: SC5D was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SC5D was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SC5D were set to LATHOSTEROLOSIS 607330 Mode of pathogenicity for gene: SC5D was set to Other - please provide details in the comments |
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DDG2P v0.1 | SBDS |
Rebecca Foulger gene: SBDS was added gene: SBDS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SBDS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SBDS were set to SHWACHMAN-DIAMOND SYNDROME 607444 |
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DDG2P v0.1 | SATB2 |
Rebecca Foulger gene: SATB2 was added gene: SATB2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SATB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SATB2 were set to 17377962 Phenotypes for gene: SATB2 were set to CLEFT PALATE ISOLATED 119540 |
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DDG2P v0.1 | SAMHD1 |
Rebecca Foulger gene: SAMHD1 was added gene: SAMHD1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SAMHD1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SAMHD1 were set to AICARDI-GOUTIERES SYNDROME 239588 |
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DDG2P v0.1 | SAMD9L |
Rebecca Foulger gene: SAMD9L was added gene: SAMD9L was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: SAMD9L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SAMD9L were set to 27259050 Phenotypes for gene: SAMD9L were set to Ataxia-Pancytopenia Syndrome Mode of pathogenicity for gene: SAMD9L was set to Other - please provide details in the comments |
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DDG2P v0.1 | SALL4 |
Rebecca Foulger gene: SALL4 was added gene: SALL4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SALL4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SALL4 were set to ACRO-RENAL-OCULAR SYNDROME 217001 |
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DDG2P v0.1 | SALL1 |
Rebecca Foulger gene: SALL1 was added gene: SALL1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SALL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SALL1 were set to 18000979; 11484202; 9973281; 10928856; 17431915; 14755477; 9425907; 10533063 Phenotypes for gene: SALL1 were set to TOWNES-BROCKS SYNDROME 107480 |
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DDG2P v0.1 | SACS |
Rebecca Foulger gene: SACS was added gene: SACS was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SACS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SACS were set to 10655055 Phenotypes for gene: SACS were set to SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE 270550 |
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DDG2P v0.1 | RYR3 |
Rebecca Foulger gene: RYR3 was added gene: RYR3 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: RYR3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RYR3 were set to 25262651 Phenotypes for gene: RYR3 were set to EPILEPTIC ENCEPHALOPATHY |
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DDG2P v0.1 | RYR1 |
Rebecca Foulger gene: RYR1 was added gene: RYR1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RYR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RYR1 were set to 20839240 Phenotypes for gene: RYR1 were set to MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA 255320 |
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DDG2P v0.1 | RUNX2 |
Rebecca Foulger gene: RUNX2 was added gene: RUNX2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RUNX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RUNX2 were set to 12081718; 9182765; 9207800; 12424590; 10521292; 15952089; 10545612 Phenotypes for gene: RUNX2 were set to CLEIDOCRANIAL DYSPLASIA 119600 |
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DDG2P v0.1 | RUBCN |
Rebecca Foulger gene: RUBCN was added gene: RUBCN was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: RUBCN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RUBCN were set to SYNDROMIC MR WITH ATAXIA, DYSARTHRIA AND EPILEPSY Mode of pathogenicity for gene: RUBCN was set to Other - please provide details in the comments |
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DDG2P v0.1 | RTTN |
Rebecca Foulger gene: RTTN was added gene: RTTN was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RTTN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RTTN were set to 22939636; 29883675; 26608784 Phenotypes for gene: RTTN were set to BILATERAL DIFFUSE POLYMICROGYRIA 614833 Mode of pathogenicity for gene: RTTN was set to Other - please provide details in the comments |
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DDG2P v0.1 | RTN4IP1 |
Rebecca Foulger gene: RTN4IP1 was added gene: RTN4IP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RTN4IP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RTN4IP1 were set to 26593267 Phenotypes for gene: RTN4IP1 were set to EARLY-ONSET RECESSIVE OPTIC NEUROPATHY |
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DDG2P v0.1 | RTEL1 |
Rebecca Foulger gene: RTEL1 was added gene: RTEL1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RTEL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RTEL1 were set to 23453664 Phenotypes for gene: RTEL1 were set to DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 615190 |
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DDG2P v0.1 | RSPRY1 |
Rebecca Foulger gene: RSPRY1 was added gene: RSPRY1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: RSPRY1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RSPRY1 were set to 26365341 Phenotypes for gene: RSPRY1 were set to PROGRESSIVE SPONDYLOEPIMETAPHYSEAL DYSPLASIA |
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DDG2P v0.1 | RSPO4 |
Rebecca Foulger gene: RSPO4 was added gene: RSPO4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RSPO4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RSPO4 were set to 4702713; 17041604; 17186469; 18070203; 17914448 Phenotypes for gene: RSPO4 were set to ANONYCHIA CONGENITA 206800 |
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DDG2P v0.1 | RSPO2 |
Rebecca Foulger gene: RSPO2 was added gene: RSPO2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: RSPO2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RSPO2 were set to 29769720 Phenotypes for gene: RSPO2 were set to Tetra-amelia with lung agenesis |
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DDG2P v0.1 | RSPH3 |
Rebecca Foulger gene: RSPH3 was added gene: RSPH3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RSPH3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RSPH3 were set to 26073779 Phenotypes for gene: RSPH3 were set to PRIMARY CILIARY DYSKINESIA WITH CENTRAL-COMPLEX DEFECTS |
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DDG2P v0.1 | RSPH1 |
Rebecca Foulger gene: RSPH1 was added gene: RSPH1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RSPH1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RSPH1 were set to 23993197 Phenotypes for gene: RSPH1 were set to PRIMARY CILIARY DYSKINESIA WITH CENTRAL-COMPLEX AND RADIAL-SPOKE DEFECTS |
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DDG2P v0.1 | RRM2B |
Rebecca Foulger gene: RRM2B was added gene: RRM2B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RRM2B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RRM2B were set to 17486094; 19616983; 23968935; 23107649; 28482374 Phenotypes for gene: RRM2B were set to Mitochondrial depletion syndrome |
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DDG2P v0.1 | RRAS |
Rebecca Foulger gene: RRAS was added gene: RRAS was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: RRAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RRAS were set to 24705357 Phenotypes for gene: RRAS were set to ATYPICAL NOONAN SYNDROME Mode of pathogenicity for gene: RRAS was set to Other - please provide details in the comments |
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DDG2P v0.1 | RPS6KA3 |
Rebecca Foulger gene: RPS6KA3 was added gene: RPS6KA3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RPS6KA3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: RPS6KA3 were set to 10528858; 12439904; 17717706; 9887375; 12558110; 11992250; 9837815; 10094187; 15214012; 8955270; 14986828 Phenotypes for gene: RPS6KA3 were set to COFFIN-LOWRY SYNDROME 303600 |
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DDG2P v0.1 | RPS23 |
Rebecca Foulger gene: RPS23 was added gene: RPS23 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: RPS23 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RPS23 were set to 28257692 Phenotypes for gene: RPS23 were set to Microcephaly, hearing loss, and dysmorphic features Mode of pathogenicity for gene: RPS23 was set to Other - please provide details in the comments |
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DDG2P v0.1 | RPS19 |
Rebecca Foulger gene: RPS19 was added gene: RPS19 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RPS19 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: RPS19 were set to RPS19-RELATED DIAMOND-BLACKFAN ANEMIA 220176 |
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DDG2P v0.1 | RPL11 |
Rebecca Foulger gene: RPL11 was added gene: RPL11 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RPL11 was set to Publications for gene: RPL11 were set to 19191325; 19061985; 19773262 Phenotypes for gene: RPL11 were set to Diamond-Blackfan anemia with cleft palate and abnormal thumbs |
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DDG2P v0.1 | RPGRIP1L |
Rebecca Foulger gene: RPGRIP1L was added gene: RPGRIP1L was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RPGRIP1L was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RPGRIP1L were set to COACH SYNDROME 216360 |
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DDG2P v0.1 | RPGRIP1 |
Rebecca Foulger gene: RPGRIP1 was added gene: RPGRIP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RPGRIP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RPGRIP1 were set to 11283794; 11528500 Phenotypes for gene: RPGRIP1 were set to LEBER CONGENITAL AMAUROSIS 6 613826 |
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DDG2P v0.1 | RPE65 |
Rebecca Foulger gene: RPE65 was added gene: RPE65 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RPE65 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RPE65 were set to 9326927 Phenotypes for gene: RPE65 were set to LEBER CONGENITAL AMAUROSIS 608553 |
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DDG2P v0.1 | RORA |
Rebecca Foulger gene: RORA was added gene: RORA was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: RORA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RORA were set to 29656859 Phenotypes for gene: RORA were set to INTELLECTUAL DISABILITY |
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DDG2P v0.1 | ROR2 |
Rebecca Foulger gene: ROR2 was added gene: ROR2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ROR2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: ROR2 were set to 10932186; 19640924; 15952209; 18831060; 10932187 Phenotypes for gene: ROR2 were set to ROR2-RELATED DISORDERS AR 268310 |
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DDG2P v0.1 | ROGDI |
Rebecca Foulger gene: ROGDI was added gene: ROGDI was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ROGDI was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ROGDI were set to 16411202; 8133980; 3236364; 22424600; 22482807; 7625549 Phenotypes for gene: ROGDI were set to KOHLSCHTTER-TNZ SYNDROME 226750 |
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DDG2P v0.1 | ROBO3 |
Rebecca Foulger gene: ROBO3 was added gene: ROBO3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ROBO3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ROBO3 were set to 16525029; 15105459 Phenotypes for gene: ROBO3 were set to FAMILIAL HORIZONTAL GAZE PALSY WITH PROGRESSIVE SCOLIOSIS 607313 |
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DDG2P v0.1 | RNU4ATAC |
Rebecca Foulger gene: RNU4ATAC was added gene: RNU4ATAC was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RNU4ATAC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNU4ATAC were set to 17666473; 21474761; 22581640; 21474760 Phenotypes for gene: RNU4ATAC were set to MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I 210710 Mode of pathogenicity for gene: RNU4ATAC was set to Other - please provide details in the comments |
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DDG2P v0.1 | RNF168 |
Rebecca Foulger gene: RNF168 was added gene: RNF168 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: RNF168 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RNF168 were set to RIDDLE SYNDROME 611943 |
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DDG2P v0.1 | RNF135 |
Rebecca Foulger gene: RNF135 was added gene: RNF135 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: RNF135 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RNF135 were set to 17632510 Phenotypes for gene: RNF135 were set to MACROCEPHALY, MACROSOMIA, FACIAL DYSMORPHISM SYNDROME 614192 |
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DDG2P v0.1 | RNF113A |
Rebecca Foulger gene: RNF113A was added gene: RNF113A was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: RNF113A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: RNF113A were set to 25612912 Phenotypes for gene: RNF113A were set to X-LINKED TRICHOTHIODYSTROPHY |
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DDG2P v0.1 | RNASET2 |
Rebecca Foulger gene: RNASET2 was added gene: RNASET2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RNASET2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNASET2 were set to 19525954 Phenotypes for gene: RNASET2 were set to LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY 612951 |
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DDG2P v0.1 | RNASEH2C |
Rebecca Foulger gene: RNASEH2C was added gene: RNASEH2C was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RNASEH2C was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNASEH2C were set to 16845400 Phenotypes for gene: RNASEH2C were set to AICARDI-GOUTIERES SYNDROME 3 610329 |
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DDG2P v0.1 | RNASEH2B |
Rebecca Foulger gene: RNASEH2B was added gene: RNASEH2B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RNASEH2B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNASEH2B were set to 16845400 Phenotypes for gene: RNASEH2B were set to AICARDI-GOUTIERES SYNDROME 2 610181 |
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DDG2P v0.1 | RNASEH2A |
Rebecca Foulger gene: RNASEH2A was added gene: RNASEH2A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RNASEH2A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNASEH2A were set to 15870678 Phenotypes for gene: RNASEH2A were set to AICARDI-GOUTIERES SYNDROME 4 610333 |
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DDG2P v0.1 | RMRP |
Rebecca Foulger gene: RMRP was added gene: RMRP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RMRP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RMRP were set to CARTILAGE-HAIR HYPOPLASIA 250250 |
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DDG2P v0.1 | RMND1 |
Rebecca Foulger gene: RMND1 was added gene: RMND1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: RMND1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RMND1 were set to 23022099 Phenotypes for gene: RMND1 were set to ENCEPHALOPATHY ASSOCIATED WITH MULTIPLE OXIDATIVE PHOSPHORYLATION COMPLEX DEFICIENCIES AND A MITOCHONDRIAL TRANSLATION DEFECT 614922 Mode of pathogenicity for gene: RMND1 was set to Other - please provide details in the comments |
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DDG2P v0.1 | RLIM |
Rebecca Foulger gene: RLIM was added gene: RLIM was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: RLIM was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: RLIM were set to 25644381 Phenotypes for gene: RLIM were set to INTELLECTUAL DISABILITY Mode of pathogenicity for gene: RLIM was set to Other - please provide details in the comments |
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DDG2P v0.1 | RIT1 |
Rebecca Foulger gene: RIT1 was added gene: RIT1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RIT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RIT1 were set to 23791108 Phenotypes for gene: RIT1 were set to NOONAN SYNDROME 8 615355 Mode of pathogenicity for gene: RIT1 was set to Other - please provide details in the comments |
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DDG2P v0.1 | RIPK4 |
Rebecca Foulger gene: RIPK4 was added gene: RIPK4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RIPK4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RIPK4 were set to 15264293; 22197488 Phenotypes for gene: RIPK4 were set to POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE 263650 |
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DDG2P v0.1 | RIN2 |
Rebecca Foulger gene: RIN2 was added gene: RIN2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: RIN2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RIN2 were set to 19631308 Phenotypes for gene: RIN2 were set to MACROCEPHALY, ALOPECIA, CUTIS LAXA, AND SCOLIOSIS TALL FOREHEAD, SPARSE HAIR, SKIN HYPEREXTENSIBILITY, AND SCOLIOSIS |
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DDG2P v0.1 | RGS7 |
Rebecca Foulger gene: RGS7 was added gene: RGS7 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: RGS7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RGS7 were set to 21937992 Phenotypes for gene: RGS7 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION |
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DDG2P v0.1 | RFX6 |
Rebecca Foulger gene: RFX6 was added gene: RFX6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RFX6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RFX6 were set to 18512226; 20148032; 19887127; 15592663 Phenotypes for gene: RFX6 were set to MARTINEZ-FRIAS SYNDROME 601346 |
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DDG2P v0.1 | RFT1 |
Rebecca Foulger gene: RFT1 was added gene: RFT1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: RFT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RFT1 were set to 18313027 Phenotypes for gene: RFT1 were set to CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1N 612015 |
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DDG2P v0.1 | RETREG1 |
Rebecca Foulger gene: RETREG1 was added gene: RETREG1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RETREG1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RETREG1 were set to 19838196 Phenotypes for gene: RETREG1 were set to NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIB 613115 |
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DDG2P v0.1 | RET |
Rebecca Foulger gene: RET was added gene: RET was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RET was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: RET were set to RENAL AGENESIS 191830 |
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DDG2P v0.1 | RERE |
Rebecca Foulger gene: RERE was added gene: RERE was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RERE was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RERE were set to 27087320 Phenotypes for gene: RERE were set to Phenocopy of Proximal 1p36 Deletions |
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DDG2P v0.1 | RELN |
Rebecca Foulger gene: RELN was added gene: RELN was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RELN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RELN were set to LISSENCEPHALY 2 319306 |
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DDG2P v0.1 | RECQL4 |
Rebecca Foulger gene: RECQL4 was added gene: RECQL4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RECQL4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RECQL4 were set to 12952869 Phenotypes for gene: RECQL4 were set to RAPADILINO SYNDROME 266280 |
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DDG2P v0.1 | RBPJ |
Rebecca Foulger gene: RBPJ was added gene: RBPJ was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: RBPJ was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RBPJ were set to 22883147 Phenotypes for gene: RBPJ were set to ADAMS OLIVER SYNDROME Mode of pathogenicity for gene: RBPJ was set to Other - please provide details in the comments |
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DDG2P v0.1 | RBM8A |
Rebecca Foulger gene: RBM8A was added gene: RBM8A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RBM8A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RBM8A were set to 22366785 Phenotypes for gene: RBM8A were set to THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME 274000 |
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DDG2P v0.1 | RBM28 |
Rebecca Foulger gene: RBM28 was added gene: RBM28 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: RBM28 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RBM28 were set to 18439547 Phenotypes for gene: RBM28 were set to ALOPECIA NEUROLOGIC DEFECTS AND ENDOCRINOPATHY SYNDROME 612079 Mode of pathogenicity for gene: RBM28 was set to Other - please provide details in the comments |
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DDG2P v0.1 | RBM10 |
Rebecca Foulger gene: RBM10 was added gene: RBM10 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: RBM10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: RBM10 were set to 20451169; 5410571 Phenotypes for gene: RBM10 were set to TARP SYNDROME 311900 |
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DDG2P v0.1 | RAX |
Rebecca Foulger gene: RAX was added gene: RAX was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RAX was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RAX were set to 14662654; 18783408 Phenotypes for gene: RAX were set to MICROPHTHALMIA ISOLATED TYPE 3 611038 |
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DDG2P v0.1 | RASA1 |
Rebecca Foulger gene: RASA1 was added gene: RASA1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RASA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RASA1 were set to 14639529 Phenotypes for gene: RASA1 were set to PARKES WEBER SYNDROME 608355 |
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DDG2P v0.1 | RARS2 |
Rebecca Foulger gene: RARS2 was added gene: RARS2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RARS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RARS2 were set to PONTOCEREBELLAR HYPOPLASIA TYPE 6 318922 |
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DDG2P v0.1 | RARB |
Rebecca Foulger gene: RARB was added gene: RARB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RARB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: RARB were set to 24075189 Phenotypes for gene: RARB were set to MICROPHTHALMIA AND DIAPHRAGMATIC HERNIA |
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DDG2P v0.1 | RAPSN |
Rebecca Foulger gene: RAPSN was added gene: RAPSN was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RAPSN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RAPSN were set to 11791205 Phenotypes for gene: RAPSN were set to CONGENITAL MYASTHENIC SYNDROME WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 608931 |
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DDG2P v0.1 | RANBP2 |
Rebecca Foulger gene: RANBP2 was added gene: RANBP2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: RANBP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RANBP2 were set to 19118815 Phenotypes for gene: RANBP2 were set to ACUTE NECROTIZING ENCEPHALOPATHY 1, SUSCEPTIBILITY TO 285648 Mode of pathogenicity for gene: RANBP2 was set to Other - please provide details in the comments |
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DDG2P v0.1 | RALGDS |
Rebecca Foulger gene: RALGDS was added gene: RALGDS was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: RALGDS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RALGDS were set to 21937992 Phenotypes for gene: RALGDS were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION Mode of pathogenicity for gene: RALGDS was set to Other - please provide details in the comments |
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DDG2P v0.1 | RAI1 |
Rebecca Foulger gene: RAI1 was added gene: RAI1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RAI1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: RAI1 were set to SMITH-MAGENIS SYNDROME 182290 |
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DDG2P v0.1 | RAF1 |
Rebecca Foulger gene: RAF1 was added gene: RAF1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RAF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RAF1 were set to 17603483 Phenotypes for gene: RAF1 were set to NOONAN SYNDROME 5 611553 Mode of pathogenicity for gene: RAF1 was set to Other - please provide details in the comments |
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DDG2P v0.1 | RAD51C |
Rebecca Foulger gene: RAD51C was added gene: RAD51C was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: RAD51C was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RAD51C were set to 20400963 Phenotypes for gene: RAD51C were set to FANCONI ANEMIA, COMPLEMENTATION GROUP 0 613390 Mode of pathogenicity for gene: RAD51C was set to Other - please provide details in the comments |
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DDG2P v0.1 | RAD51 |
Rebecca Foulger gene: RAD51 was added gene: RAD51 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: RAD51 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RAD51 were set to 21242494 Phenotypes for gene: RAD51 were set to MIRROR MOVEMENTS 2 614508 |
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DDG2P v0.1 | RAD50 |
Rebecca Foulger gene: RAD50 was added gene: RAD50 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: RAD50 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RAD50 were set to 19409520 Phenotypes for gene: RAD50 were set to NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER 613078 |
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DDG2P v0.1 | RAD21 |
Rebecca Foulger gene: RAD21 was added gene: RAD21 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RAD21 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RAD21 were set to 22633399 Phenotypes for gene: RAD21 were set to COHESINOPATHY 614701 |
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DDG2P v0.1 | RAC1 |
Rebecca Foulger gene: RAC1 was added gene: RAC1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: RAC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RAC1 were set to 28886345 Phenotypes for gene: RAC1 were set to Developmental Disorders with Diverse Phenotypes Mode of pathogenicity for gene: RAC1 was set to Other - please provide details in the comments |
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DDG2P v0.1 | RABL6 |
Rebecca Foulger gene: RABL6 was added gene: RABL6 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: RABL6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RABL6 were set to 21937992 Phenotypes for gene: RABL6 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION Mode of pathogenicity for gene: RABL6 was set to Other - please provide details in the comments |
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DDG2P v0.1 | RAB3GAP2 |
Rebecca Foulger gene: RAB3GAP2 was added gene: RAB3GAP2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RAB3GAP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RAB3GAP2 were set to 16532399 Phenotypes for gene: RAB3GAP2 were set to MARTSOLF SYNDROME 212720 |
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DDG2P v0.1 | RAB3GAP1 |
Rebecca Foulger gene: RAB3GAP1 was added gene: RAB3GAP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RAB3GAP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RAB3GAP1 were set to 15696165; 10465117; 20512159; 15216543 Phenotypes for gene: RAB3GAP1 were set to WARBURG MICRO SYNDROME TYPE 1 600118 |
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DDG2P v0.1 | RAB39B |
Rebecca Foulger gene: RAB39B was added gene: RAB39B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RAB39B was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: RAB39B were set to 11050621; 20159109; 25434005 Phenotypes for gene: RAB39B were set to MENTAL RETARDATION X-LINKED TYPE 72 (MRX72) +/- PARKINSONS 300271 |
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DDG2P v0.1 | RAB23 |
Rebecca Foulger gene: RAB23 was added gene: RAB23 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RAB23 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RAB23 were set to 17503333; 20358613 Phenotypes for gene: RAB23 were set to ACROCEPHALOPOLYSYNDACTYLY TYPE 2 201000 |
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DDG2P v0.1 | RAB18 |
Rebecca Foulger gene: RAB18 was added gene: RAB18 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RAB18 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RAB18 were set to 21473985 Phenotypes for gene: RAB18 were set to WARBURG MICRO SYNDROME TYPE 3 614222 |
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DDG2P v0.1 | RAB11B |
Rebecca Foulger gene: RAB11B was added gene: RAB11B was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: RAB11B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RAB11B were set to 29106825 Phenotypes for gene: RAB11B were set to INTELLECTUAL DISABILITY Mode of pathogenicity for gene: RAB11B was set to Other - please provide details in the comments |
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DDG2P v0.1 | RAB11A |
Rebecca Foulger gene: RAB11A was added gene: RAB11A was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: RAB11A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RAB11A were set to 29100083 Phenotypes for gene: RAB11A were set to Epilepsy and intellectual disability Mode of pathogenicity for gene: RAB11A was set to Other - please provide details in the comments |
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DDG2P v0.1 | QRICH1 |
Rebecca Foulger gene: QRICH1 was added gene: QRICH1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: QRICH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: QRICH1 were set to 28692176 Phenotypes for gene: QRICH1 were set to QRICH1 syndrome |
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DDG2P v0.1 | QKI |
Rebecca Foulger gene: QKI was added gene: QKI was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: QKI was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: QKI were set to 20082458 Phenotypes for gene: QKI were set to INTELLECTUAL DISABILITY |
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DDG2P v0.1 | QDPR |
Rebecca Foulger gene: QDPR was added gene: QDPR was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: QDPR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: QDPR were set to 9341885; 9744478; 2116088; 8326489; 11153907 Phenotypes for gene: QDPR were set to BH4-DEFICIENT HYPERPHENYLALANINEMIA C 261630 |
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DDG2P v0.1 | QARS |
Rebecca Foulger gene: QARS was added gene: QARS was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: QARS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: QARS were set to 24656866 Phenotypes for gene: QARS were set to MICROCEPHALY, PROGRESSIVE, SEIZURES, AND CEREBRAL AND CEREBELLAR ATROPHY 615760 Mode of pathogenicity for gene: QARS was set to Other - please provide details in the comments |
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DDG2P v0.1 | PYROXD1 |
Rebecca Foulger gene: PYROXD1 was added gene: PYROXD1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: PYROXD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PYROXD1 were set to 27745833 Phenotypes for gene: PYROXD1 were set to Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization |
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DDG2P v0.1 | PYGL |
Rebecca Foulger gene: PYGL was added gene: PYGL was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PYGL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PYGL were set to 9529348; 9536091 Phenotypes for gene: PYGL were set to GLYCOGEN STORAGE DISEASE TYPE VI 232700 |
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DDG2P v0.1 | PYCR2 |
Rebecca Foulger gene: PYCR2 was added gene: PYCR2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: PYCR2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PYCR2 were set to 25865492 Phenotypes for gene: PYCR2 were set to POSTNATAL MICROCEPHALY, HYPOMYELINATION, AND REDUCED CEREBRAL WHITE-MATTER VOLUME Mode of pathogenicity for gene: PYCR2 was set to Other - please provide details in the comments |
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DDG2P v0.1 | PYCR1 |
Rebecca Foulger gene: PYCR1 was added gene: PYCR1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PYCR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PYCR1 were set to 18304158; 18348262; 16045708; 19576563; 19648921; 11424136 Phenotypes for gene: PYCR1 were set to CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB 612940 |
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DDG2P v0.1 | PXDN |
Rebecca Foulger gene: PXDN was added gene: PXDN was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: PXDN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PXDN were set to 21907015 Phenotypes for gene: PXDN were set to CONGENITAL CATARACT, CORNEAL OPACITY, AND DEVELOPMENTAL GLAUCOMA |
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DDG2P v0.1 | PURA |
Rebecca Foulger gene: PURA was added gene: PURA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PURA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PURA were set to 25342064 Phenotypes for gene: PURA were set to INTELLECTUAL DISABILITY |
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DDG2P v0.1 | PUF60 |
Rebecca Foulger gene: PUF60 was added gene: PUF60 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: PUF60 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PUF60 were set to 24140112; 27804958 Phenotypes for gene: PUF60 were set to 8Q24.3 DELETION-LIKE |
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DDG2P v0.1 | PTS |
Rebecca Foulger gene: PTS was added gene: PTS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PTS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PTS were set to 10220141; 8178819; 9450907 Phenotypes for gene: PTS were set to 6-PYRUVOYLTETRAHYDROPTERIN SYNTHASE DEFICIENCY 261640 |
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DDG2P v0.1 | PTPRF |
Rebecca Foulger gene: PTPRF was added gene: PTPRF was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: PTPRF was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PTPRF were set to 24781087 Phenotypes for gene: PTPRF were set to ATHELIA |
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DDG2P v0.1 | PTPN14 |
Rebecca Foulger gene: PTPN14 was added gene: PTPN14 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: PTPN14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PTPN14 were set to 20826270 Phenotypes for gene: PTPN14 were set to CHOANAL ATRESIA AND LYMPHEDEMA 613611 |
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DDG2P v0.1 | PTPN11 |
Rebecca Foulger gene: PTPN11 was added gene: PTPN11 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PTPN11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PTPN11 were set to LEOPARD SYNDROME TYPE 1 151100 Mode of pathogenicity for gene: PTPN11 was set to Other - please provide details in the comments |
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DDG2P v0.1 | PTHLH |
Rebecca Foulger gene: PTHLH was added gene: PTHLH was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PTHLH was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PTHLH were set to CLUBBING WITH SKELETAL DYSPLASIA INC ACROOSTEOLYSIS |
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DDG2P v0.1 | PTH1R |
Rebecca Foulger gene: PTH1R was added gene: PTH1R was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PTH1R was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: PTH1R were set to 19061984 Phenotypes for gene: PTH1R were set to PRIMARY FAILURE OF TOOTH ERUPTION 125350 |
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DDG2P v0.1 | PTH |
Rebecca Foulger gene: PTH was added gene: PTH was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: PTH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PTH were set to 2212001; 1302009; 10523031; 3005800 Phenotypes for gene: PTH were set to FAMILIAL ISOLATED HYPOPARATHYROIDISM 146200 |
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DDG2P v0.1 | PTF1A |
Rebecca Foulger gene: PTF1A was added gene: PTF1A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PTF1A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PTF1A were set to 10507728; 21749365; 15543146 Phenotypes for gene: PTF1A were set to DIABETES MELLITUS, PERMANENT NEONATAL, WITH CEREBELLAR AGENESIS 609069 |
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DDG2P v0.1 | PTEN |
Rebecca Foulger gene: PTEN was added gene: PTEN was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PTEN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PTEN were set to 9832032; 12844284; 9241266 Phenotypes for gene: PTEN were set to BANNAYAN-ZONANA SYNDROME 153480 |
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DDG2P v0.1 | PTDSS1 |
Rebecca Foulger gene: PTDSS1 was added gene: PTDSS1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PTDSS1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PTDSS1 were set to 24241535 Phenotypes for gene: PTDSS1 were set to LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM 151050 Mode of pathogenicity for gene: PTDSS1 was set to Other - please provide details in the comments |
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DDG2P v0.1 | PTCHD1 |
Rebecca Foulger gene: PTCHD1 was added gene: PTCHD1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PTCHD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: PTCHD1 were set to 20844286 Phenotypes for gene: PTCHD1 were set to AUTISM/ID 300830 |
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DDG2P v0.1 | PTCH1 |
Rebecca Foulger gene: PTCH1 was added gene: PTCH1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PTCH1 were set to 11941477; 17001668 Phenotypes for gene: PTCH1 were set to HOLOPROSENCEPHALY-7 610828 |
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DDG2P v0.1 | PSPH |
Rebecca Foulger gene: PSPH was added gene: PSPH was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PSPH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PSPH were set to 9222972; 14673469 Phenotypes for gene: PSPH were set to PHOSPHOSERINE PHOSPHATASE DEFICIENCY 614023 |
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DDG2P v0.1 | PSMD12 |
Rebecca Foulger gene: PSMD12 was added gene: PSMD12 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: PSMD12 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PSMD12 were set to 28388435 Phenotypes for gene: PSMD12 were set to Global Developmental Delay, Multiple Malformations |
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DDG2P v0.1 | PSMB8 |
Rebecca Foulger gene: PSMB8 was added gene: PSMB8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PSMB8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PSMB8 were set to 21852578; 21881205; 21129723; 21953331 Phenotypes for gene: PSMB8 were set to NAKAJO SYNDROME 256040 Mode of pathogenicity for gene: PSMB8 was set to Other - please provide details in the comments |
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DDG2P v0.1 | PSAT1 |
Rebecca Foulger gene: PSAT1 was added gene: PSAT1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: PSAT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PSAT1 were set to 17436247 Phenotypes for gene: PSAT1 were set to PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY 610992 |
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DDG2P v0.1 | PSAP |
Rebecca Foulger gene: PSAP was added gene: PSAP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PSAP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PSAP were set to 15773042 Phenotypes for gene: PSAP were set to ATYPICAL KRABBE DISEASE 611722 |
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DDG2P v0.1 | PRUNE1 |
Rebecca Foulger gene: PRUNE1 was added gene: PRUNE1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: PRUNE1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PRUNE1 were set to 28211990; 28334956 Phenotypes for gene: PRUNE1 were set to PEHO Like condition |
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DDG2P v0.1 | PRSS56 |
Rebecca Foulger gene: PRSS56 was added gene: PRSS56 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PRSS56 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PRSS56 were set to 19526372; 21397065 Phenotypes for gene: PRSS56 were set to MICROPHTHALMIA ISOLATED TYPE 6 613517 |
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DDG2P v0.1 | PRSS12 |
Rebecca Foulger gene: PRSS12 was added gene: PRSS12 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PRSS12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PRSS12 were set to 12459588 Phenotypes for gene: PRSS12 were set to MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 1 249500 |
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DDG2P v0.1 | PRRX1 |
Rebecca Foulger gene: PRRX1 was added gene: PRRX1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: PRRX1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: PRRX1 were set to 22211708; 23444262 Phenotypes for gene: PRRX1 were set to AGNATHIA-OTOCEPHALY COMPLEX 202650 Mode of pathogenicity for gene: PRRX1 was set to Other - please provide details in the comments |
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DDG2P v0.1 | PRRT2 |
Rebecca Foulger gene: PRRT2 was added gene: PRRT2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PRRT2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: PRRT2 were set to 21937992 Phenotypes for gene: PRRT2 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION |
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DDG2P v0.1 | PRPS1 |
Rebecca Foulger gene: PRPS1 was added gene: PRPS1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PRPS1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: PRPS1 were set to 17701900 Phenotypes for gene: PRPS1 were set to CHARCOT-MARIE-TOOTH DISEASE X-LINKED RECESSIVE TYPE 5 311070 |
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DDG2P v0.1 | PROP1 |
Rebecca Foulger gene: PROP1 was added gene: PROP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PROP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PROP1 were set to PROP1-RELATED COMBINED PITUITARY HORMONE DEFICIENCY 262600 |
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DDG2P v0.1 | PRMT9 |
Rebecca Foulger gene: PRMT9 was added gene: PRMT9 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: PRMT9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PRMT9 were set to 21937992 Phenotypes for gene: PRMT9 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION Mode of pathogenicity for gene: PRMT9 was set to Other - please provide details in the comments |
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DDG2P v0.1 | PRMT7 |
Rebecca Foulger gene: PRMT7 was added gene: PRMT7 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PRMT7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PRMT7 were set to 26437029 Phenotypes for gene: PRMT7 were set to Pseudohypoparathyroidism-like disorder |
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DDG2P v0.1 | PRKD1 |
Rebecca Foulger gene: PRKD1 was added gene: PRKD1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PRKD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PRKD1 were set to Syndromic congenital heart defects Mode of pathogenicity for gene: PRKD1 was set to Other - please provide details in the comments |
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DDG2P v0.1 | PRKAR1A |
Rebecca Foulger gene: PRKAR1A was added gene: PRKAR1A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PRKAR1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PRKAR1A were set to 22464252; 21651393; 22464250 Phenotypes for gene: PRKAR1A were set to ACRODYSOSTOSIS 101800 Mode of pathogenicity for gene: PRKAR1A was set to Other - please provide details in the comments |
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DDG2P v0.1 | PREPL |
Rebecca Foulger gene: PREPL was added gene: PREPL was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: PREPL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PREPL were set to 24610330 Phenotypes for gene: PREPL were set to HYPOTONIA-CYSTINURIA SYNDROME 606407 |
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DDG2P v0.1 | PRDM6 |
Rebecca Foulger gene: PRDM6 was added gene: PRDM6 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: PRDM6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PRDM6 were set to 27181681 Phenotypes for gene: PRDM6 were set to Isolated Nonsyndromic Patent Ductus Arteriosus. Mode of pathogenicity for gene: PRDM6 was set to Other - please provide details in the comments |
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DDG2P v0.1 | PRDM12 |
Rebecca Foulger gene: PRDM12 was added gene: PRDM12 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PRDM12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PRDM12 were set to 26005867 Phenotypes for gene: PRDM12 were set to HEREDITARY SENSORY & AUTONOMIC NEUROPATHY TYPE VIII 616488 |
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DDG2P v0.1 | PQBP1 |
Rebecca Foulger gene: PQBP1 was added gene: PQBP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PQBP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: PQBP1 were set to 16740914; 13981686; 3177467; 16493439; 7943045; 14634649 Phenotypes for gene: PQBP1 were set to RENPENNING S(YNDROME 1 309500 |
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DDG2P v0.1 | PPT1 |
Rebecca Foulger gene: PPT1 was added gene: PPT1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PPT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PPT1 were set to NEURONAL CEROID LIPOFUSCINOSIS TYPE 1 256730 |
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DDG2P v0.1 | PPP3CA |
Rebecca Foulger gene: PPP3CA was added gene: PPP3CA was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: PPP3CA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PPP3CA were set to 28942967 Phenotypes for gene: PPP3CA were set to Severe Neurodevelopmental Disease with Seizures Mode of pathogenicity for gene: PPP3CA was set to Other - please provide details in the comments |
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DDG2P v0.1 | PPP2R5D |
Rebecca Foulger gene: PPP2R5D was added gene: PPP2R5D was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PPP2R5D was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PPP2R5D were set to 25533962 Phenotypes for gene: PPP2R5D were set to INTELLECTUAL DISABILITY Mode of pathogenicity for gene: PPP2R5D was set to Other - please provide details in the comments |
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DDG2P v0.1 | PPP2R1A |
Rebecca Foulger gene: PPP2R1A was added gene: PPP2R1A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PPP2R1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PPP2R1A were set to 25533962 Phenotypes for gene: PPP2R1A were set to INTELLECTUAL DISABILITY Mode of pathogenicity for gene: PPP2R1A was set to Other - please provide details in the comments |
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DDG2P v0.1 | PPP1R15B |
Rebecca Foulger gene: PPP1R15B was added gene: PPP1R15B was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: PPP1R15B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PPP1R15B were set to 26307080 Phenotypes for gene: PPP1R15B were set to Severe microcephaly, short stature and intellectual disability |
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DDG2P v0.1 | PPP1CB |
Rebecca Foulger gene: PPP1CB was added gene: PPP1CB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PPP1CB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PPP1CB were set to 27264673 Phenotypes for gene: PPP1CB were set to Rasopathy with developmental delay, short stature and sparse slow-growing hair Mode of pathogenicity for gene: PPP1CB was set to Other - please provide details in the comments |
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DDG2P v0.1 | PPM1D |
Rebecca Foulger gene: PPM1D was added gene: PPM1D was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PPM1D was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PPM1D were set to 28343630; 28135719 Phenotypes for gene: PPM1D were set to PPM1D syndrome |
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DDG2P v0.1 | PPA2 |
Rebecca Foulger gene: PPA2 was added gene: PPA2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PPA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PPA2 were set to 27523598; 27523597 Phenotypes for gene: PPA2 were set to Sudden arrhythmic cardiac death after infectious or alcohol trigger Mode of pathogenicity for gene: PPA2 was set to Other - please provide details in the comments |
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DDG2P v0.1 | POU1F1 |
Rebecca Foulger gene: POU1F1 was added gene: POU1F1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: POU1F1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POU1F1 were set to 12629113; 7670563; 9626142; 2634610; 16968807; 11297581; 1472057; 15928241; 1302000; 1509262; 8768831 Phenotypes for gene: POU1F1 were set to POU1F1-RELATED COMBINED PITUITARY HORMONE DEFICIENCY 613038 |
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DDG2P v0.1 | POT1 |
Rebecca Foulger gene: POT1 was added gene: POT1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: POT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POT1 were set to 27013236 Phenotypes for gene: POT1 were set to Coats Plus Mode of pathogenicity for gene: POT1 was set to Other - please provide details in the comments |
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DDG2P v0.1 | PORCN |
Rebecca Foulger gene: PORCN was added gene: PORCN was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PORCN was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: PORCN were set to 17546031; 17546030; 18325042 Phenotypes for gene: PORCN were set to FOCAL DERMAL HYPOPLASIA 305600 |
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DDG2P v0.1 | POMT2 |
Rebecca Foulger gene: POMT2 was added gene: POMT2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: POMT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POMT2 were set to 19299310; 19138766; 17634419 Phenotypes for gene: POMT2 were set to MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH MENTAL RETARDATION TYPE B2 613156 |
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DDG2P v0.1 | POMT1 |
Rebecca Foulger gene: POMT1 was added gene: POMT1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: POMT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POMT1 were set to 15037715; 11320179; 17878207; 12369018; 19299310 Phenotypes for gene: POMT1 were set to MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A1 236670 |
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DDG2P v0.1 | POMP |
Rebecca Foulger gene: POMP was added gene: POMP was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: POMP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POMP were set to 20226437 Phenotypes for gene: POMP were set to KERATOSIS LINEARIS WITH ICHTHYOSIS CONGENITA AND SCLEROSING KERATODERMA 601952 Mode of pathogenicity for gene: POMP was set to Other - please provide details in the comments |
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DDG2P v0.1 | POMGNT2 |
Rebecca Foulger gene: POMGNT2 was added gene: POMGNT2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: POMGNT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POMGNT2 were set to 22958903 Phenotypes for gene: POMGNT2 were set to WALKER WARBERG SYNDROME 614830 |
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DDG2P v0.1 | POMGNT1 |
Rebecca Foulger gene: POMGNT1 was added gene: POMGNT1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: POMGNT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POMGNT1 were set to 19299310; 19067344 Phenotypes for gene: POMGNT1 were set to MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH MENTAL RETARDATION TYPE B3 613151 |
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DDG2P v0.1 | POLR3B |
Rebecca Foulger gene: POLR3B was added gene: POLR3B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: POLR3B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: POLR3B were set to LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM 607694 |
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DDG2P v0.1 | POLR3A |
Rebecca Foulger gene: POLR3A was added gene: POLR3A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: POLR3A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POLR3A were set to 21855841; 17159124; 22036171; 12605447 Phenotypes for gene: POLR3A were set to LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM 607694 |
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DDG2P v0.1 | POLR1D |
Rebecca Foulger gene: POLR1D was added gene: POLR1D was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: POLR1D was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: POLR1D were set to 21131976 Phenotypes for gene: POLR1D were set to TREACHER COLLINS SYNDROME TYPE 2 613717 |
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DDG2P v0.1 | POLR1C |
Rebecca Foulger gene: POLR1C was added gene: POLR1C was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: POLR1C was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POLR1C were set to 21131976 Phenotypes for gene: POLR1C were set to TREACHER COLLINS SYNDROME TYPE 3 248390 |
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DDG2P v0.1 | POLR1A |
Rebecca Foulger gene: POLR1A was added gene: POLR1A was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: POLR1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: POLR1A were set to 25913037 Phenotypes for gene: POLR1A were set to ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE |
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DDG2P v0.1 | POLG |
Rebecca Foulger gene: POLG was added gene: POLG was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: POLG was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: POLG were set to MITOCHONDRIAL DNA DEPLETION SYNDROME 4A 607459 Mode of pathogenicity for gene: POLG was set to Other - please provide details in the comments |
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DDG2P v0.1 | POLD1 |
Rebecca Foulger gene: POLD1 was added gene: POLD1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: POLD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: POLD1 were set to 23770608 Phenotypes for gene: POLD1 were set to SUBCUTANEOUS LIPODYSTROPHY, DEAFNESS, MANDIBULAR HYPOPLASIA AND MALE HYPOGONADISM Mode of pathogenicity for gene: POLD1 was set to Other - please provide details in the comments |
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DDG2P v0.1 | POGZ |
Rebecca Foulger gene: POGZ was added gene: POGZ was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: POGZ was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: POGZ were set to 26942287; 25533962 Phenotypes for gene: POGZ were set to INTELLECTUAL DISABILITY |
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DDG2P v0.1 | POC1B |
Rebecca Foulger gene: POC1B was added gene: POC1B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: POC1B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POC1B were set to 25018096 Phenotypes for gene: POC1B were set to AUTOSOMAL-RECESSIVE CONE-ROD DYSTROPHY |
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DDG2P v0.1 | POC1A |
Rebecca Foulger gene: POC1A was added gene: POC1A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: POC1A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POC1A were set to 22840364; 26336158; 22440536; 22840363 Phenotypes for gene: POC1A were set to SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS SYNDROME 614813 |
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DDG2P v0.1 | PNPT1 |
Rebecca Foulger gene: PNPT1 was added gene: PNPT1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PNPT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PNPT1 were set to 23084291 Phenotypes for gene: PNPT1 were set to RESPIRATORY CHAIN DISORDER 614932 |
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DDG2P v0.1 | PNPLA2 |
Rebecca Foulger gene: PNPLA2 was added gene: PNPLA2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: PNPLA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PNPLA2 were set to 17187067; 22832386 Phenotypes for gene: PNPLA2 were set to NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY 610717 |
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DDG2P v0.1 | PNPLA1 |
Rebecca Foulger gene: PNPLA1 was added gene: PNPLA1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: PNPLA1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PNPLA1 were set to CONGENITAL ICHTHYOSIS Mode of pathogenicity for gene: PNPLA1 was set to Other - please provide details in the comments |
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DDG2P v0.1 | PNKP |
Rebecca Foulger gene: PNKP was added gene: PNKP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PNKP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PNKP were set to 20118933 Phenotypes for gene: PNKP were set to EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 10 613402 |
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DDG2P v0.1 | PMS2 |
Rebecca Foulger gene: PMS2 was added gene: PMS2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PMS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PMS2 were set to MISMATCH REPAIR CANCER SYNDROME 276300 |
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DDG2P v0.1 | PMM2 |
Rebecca Foulger gene: PMM2 was added gene: PMM2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PMM2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PMM2 were set to 17307006; 10527672; 9497260; 9887379; 10922383; 10602363; 19235233; 11916319; 9140401; 9781039; 21937992 Phenotypes for gene: PMM2 were set to CONGENITAL DISORDERS OF GLYCOSYLATION 612379 |
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DDG2P v0.1 | PLXND1 |
Rebecca Foulger gene: PLXND1 was added gene: PLXND1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: PLXND1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: PLXND1 were set to MOEBIUS SYNDROME Mode of pathogenicity for gene: PLXND1 was set to Other - please provide details in the comments |
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DDG2P v0.1 | PLPBP |
Rebecca Foulger gene: PLPBP was added gene: PLPBP was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: PLPBP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLPBP were set to 27912044 Phenotypes for gene: PLPBP were set to Vitamin-B6-Dependent Epilepsy |
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DDG2P v0.1 | PLP1 |
Rebecca Foulger gene: PLP1 was added gene: PLP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PLP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: PLP1 were set to 8659540; 8723686; 3827224; 9056547; 11071483; 1720927; 7574457; 1707231; 2773936; 1715570; 8696336; 8786077; 1384324; 7573159; 7683951; 1605230; 2480601 Phenotypes for gene: PLP1 were set to LEUKODYSTROPHY HYPOMYELINATING TYPE 1 312080 |
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DDG2P v0.1 | PLOD3 |
Rebecca Foulger gene: PLOD3 was added gene: PLOD3 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: PLOD3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLOD3 were set to 18834968 Phenotypes for gene: PLOD3 were set to LYSYL HYDROXYLASE 3 DEFICIENCY 612394 |
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DDG2P v0.1 | PLOD2 |
Rebecca Foulger gene: PLOD2 was added gene: PLOD2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PLOD2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLOD2 were set to 15523624 Phenotypes for gene: PLOD2 were set to BRUCK SYNDROME TYPE 2 609220 |
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DDG2P v0.1 | PLOD1 |
Rebecca Foulger gene: PLOD1 was added gene: PLOD1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PLOD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLOD1 were set to 5016372; 9450904; 1345174; 8163671 Phenotypes for gene: PLOD1 were set to EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC FORM 225400 |
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DDG2P v0.1 | PLK4 |
Rebecca Foulger gene: PLK4 was added gene: PLK4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PLK4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLK4 were set to 25344692 Phenotypes for gene: PLK4 were set to MICROCEPHALY, GROWTH FAILURE AND RETINOPATHY 616171 |
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DDG2P v0.1 | PLEC |
Rebecca Foulger gene: PLEC was added gene: PLEC was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: PLEC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PLEC were set to MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q 613723 |
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DDG2P v0.1 | PLCG2 |
Rebecca Foulger gene: PLCG2 was added gene: PLCG2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: PLCG2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PLCG2 were set to 23000145 Phenotypes for gene: PLCG2 were set to AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED 614878 |
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DDG2P v0.1 | PLCE1 |
Rebecca Foulger gene: PLCE1 was added gene: PLCE1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PLCE1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLCE1 were set to 17086182; 20591883 Phenotypes for gene: PLCE1 were set to NEPHROTIC SYNDROME, TYPE 3 610725 |
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DDG2P v0.1 | PLCB4 |
Rebecca Foulger gene: PLCB4 was added gene: PLCB4 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: PLCB4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PLCB4 were set to AURICULOCONDYLAR SYNDROME 602483 Mode of pathogenicity for gene: PLCB4 was set to Other - please provide details in the comments |
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DDG2P v0.1 | PLCB1 |
Rebecca Foulger gene: PLCB1 was added gene: PLCB1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: PLCB1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLCB1 were set to 20833646 Phenotypes for gene: PLCB1 were set to EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12 613722 |
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DDG2P v0.1 | PLAA |
Rebecca Foulger gene: PLAA was added gene: PLAA was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: PLAA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLAA were set to 28413018 Phenotypes for gene: PLAA were set to Lethal Infantile Epileptic Encephalopathy |
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DDG2P v0.1 | PLA2G6 |
Rebecca Foulger gene: PLA2G6 was added gene: PLA2G6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PLA2G6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PLA2G6 were set to NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B 610217 |
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DDG2P v0.1 | PKHD1 |
Rebecca Foulger gene: PKHD1 was added gene: PKHD1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PKHD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PKHD1 were set to 11919560; 19021639; 12506140 Phenotypes for gene: PKHD1 were set to POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE 263200 |
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DDG2P v0.1 | PKD1L1 |
Rebecca Foulger gene: PKD1L1 was added gene: PKD1L1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PKD1L1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PKD1L1 were set to 27616478 Phenotypes for gene: PKD1L1 were set to Laterality defects |
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DDG2P v0.1 | PITX3 |
Rebecca Foulger gene: PITX3 was added gene: PITX3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PITX3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PITX3 were set to 15286169 Phenotypes for gene: PITX3 were set to CATARACT POSTERIOR POLAR TYPE 4 610623 |
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DDG2P v0.1 | PITX2 |
Rebecca Foulger gene: PITX2 was added gene: PITX2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PITX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PITX2 were set to 8942889; 7581385 Phenotypes for gene: PITX2 were set to IRIDOGONIODYSGENESIS TYPE 2 137600 |
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DDG2P v0.1 | PITX1 |
Rebecca Foulger gene: PITX1 was added gene: PITX1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: PITX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PITX1 were set to HOMEOTIC ARM-TO-LEG TRANSFORMATION ASSOCIATED WITH GENOMIC REARRANGEMENTS AT THE PITX1 LOCUS |
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DDG2P v0.1 | PIP5K1C |
Rebecca Foulger gene: PIP5K1C was added gene: PIP5K1C was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: PIP5K1C was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PIP5K1C were set to LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 3 611369 Mode of pathogenicity for gene: PIP5K1C was set to Other - please provide details in the comments |
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DDG2P v0.1 | PIK3R2 |
Rebecca Foulger gene: PIK3R2 was added gene: PIK3R2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PIK3R2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PIK3R2 were set to 26860062; 22729224 Phenotypes for gene: PIK3R2 were set to MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1 603387 Mode of pathogenicity for gene: PIK3R2 was set to Other - please provide details in the comments |
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DDG2P v0.1 | PIK3R1 |
Rebecca Foulger gene: PIK3R1 was added gene: PIK3R1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PIK3R1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: PIK3R1 were set to 23810378 Phenotypes for gene: PIK3R1 were set to SHORT SYNDROME 269880 |
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DDG2P v0.1 | PIK3CA |
Rebecca Foulger gene: PIK3CA was added gene: PIK3CA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PIK3CA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PIK3CA were set to 22658544 Phenotypes for gene: PIK3CA were set to CLOVES: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI 612918 Mode of pathogenicity for gene: PIK3CA was set to Other - please provide details in the comments |
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DDG2P v0.1 | PIH1D3 |
Rebecca Foulger gene: PIH1D3 was added gene: PIH1D3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: PIH1D3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: PIH1D3 were set to 28041644 Phenotypes for gene: PIH1D3 were set to X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects |
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DDG2P v0.1 | PIGY |
Rebecca Foulger gene: PIGY was added gene: PIGY was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: PIGY was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIGY were set to 26293662 Phenotypes for gene: PIGY were set to Glycosylphosphatidylinositol deficiency Mode of pathogenicity for gene: PIGY was set to Other - please provide details in the comments |
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DDG2P v0.1 | PIGW |
Rebecca Foulger gene: PIGW was added gene: PIGW was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: PIGW was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIGW were set to 24367057 Phenotypes for gene: PIGW were set to HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 5 616025 Mode of pathogenicity for gene: PIGW was set to Other - please provide details in the comments |
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DDG2P v0.1 | PIGV |
Rebecca Foulger gene: PIGV was added gene: PIGV was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PIGV was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIGV were set to 17351347; 20802478 Phenotypes for gene: PIGV were set to HYPERPHOSPHATASIA WITH MENTAL RETARDATION 239300 Mode of pathogenicity for gene: PIGV was set to Other - please provide details in the comments |
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DDG2P v0.1 | PIGT |
Rebecca Foulger gene: PIGT was added gene: PIGT was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PIGT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIGT were set to 23636107; 24906948 Phenotypes for gene: PIGT were set to MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 615398 Mode of pathogenicity for gene: PIGT was set to Other - please provide details in the comments |
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DDG2P v0.1 | PIGQ |
Rebecca Foulger gene: PIGQ was added gene: PIGQ was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: PIGQ was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIGQ were set to 24463883 Phenotypes for gene: PIGQ were set to SEVERE EARLY-ONSET EPILEPSY |
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DDG2P v0.1 | PIGO |
Rebecca Foulger gene: PIGO was added gene: PIGO was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PIGO was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIGO were set to 22683086 Phenotypes for gene: PIGO were set to HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2 614749 |
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DDG2P v0.1 | PIGN |
Rebecca Foulger gene: PIGN was added gene: PIGN was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: PIGN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIGN were set to 21493957 Phenotypes for gene: PIGN were set to MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 614080 Mode of pathogenicity for gene: PIGN was set to Other - please provide details in the comments |
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DDG2P v0.1 | PIGM |
Rebecca Foulger gene: PIGM was added gene: PIGM was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: PIGM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIGM were set to 16767100 Phenotypes for gene: PIGM were set to Glycosylphosphatidylinositol deficiency Mode of pathogenicity for gene: PIGM was set to Other - please provide details in the comments |
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DDG2P v0.1 | PIGL |
Rebecca Foulger gene: PIGL was added gene: PIGL was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PIGL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIGL were set to 22444671 Phenotypes for gene: PIGL were set to ZUNICH NEUROECTODERMAL SYNDROME 280000 |
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DDG2P v0.1 | PIGG |
Rebecca Foulger gene: PIGG was added gene: PIGG was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: PIGG was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIGG were set to 26996948 Phenotypes for gene: PIGG were set to Intellectual Disability with Seizures and Hypotonia |
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DDG2P v0.1 | PIGA |
Rebecca Foulger gene: PIGA was added gene: PIGA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PIGA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: PIGA were set to 22305531 Phenotypes for gene: PIGA were set to MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 300868 |
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DDG2P v0.1 | PIEZO2 |
Rebecca Foulger gene: PIEZO2 was added gene: PIEZO2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PIEZO2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: PIEZO2 were set to 24726473 Phenotypes for gene: PIEZO2 were set to ARTHROGRYPOSIS, DISTAL, TYPE 3 114300 |
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DDG2P v0.1 | PIEZO1 |
Rebecca Foulger gene: PIEZO1 was added gene: PIEZO1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: PIEZO1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIEZO1 were set to 26387913 Phenotypes for gene: PIEZO1 were set to Congenital lymphatic dysplasia with hydrops and/or lymphoedema |
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DDG2P v0.1 | PHOX2B |
Rebecca Foulger gene: PHOX2B was added gene: PHOX2B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PHOX2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PHOX2B were set to 12640453 Phenotypes for gene: PHOX2B were set to CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE 209880 Mode of pathogenicity for gene: PHOX2B was set to Other - please provide details in the comments |
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DDG2P v0.1 | PHIP |
Rebecca Foulger gene: PHIP was added gene: PHIP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PHIP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PHIP were set to 29209020; 23033978 Phenotypes for gene: PHIP were set to Developmental delay, ID, obesity and dysmorphic features |
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DDG2P v0.1 | PHGDH |
Rebecca Foulger gene: PHGDH was added gene: PHGDH was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PHGDH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PHGDH were set to 24836451 Phenotypes for gene: PHGDH were set to NEU-LAXOVA SYNDROME 256520 |
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DDG2P v0.1 | PHF8 |
Rebecca Foulger gene: PHF8 was added gene: PHF8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PHF8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: PHF8 were set to 10398231; 17594395; 16199551; 17661819 Phenotypes for gene: PHF8 were set to MENTAL RETARDATION SYNDROMIC X-LINKED SIDERIUS TYPE 300263 |
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DDG2P v0.1 | PHF6 |
Rebecca Foulger gene: PHF6 was added gene: PHF6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PHF6 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: PHF6 were set to 15994862; 12415272; 15466013 Phenotypes for gene: PHF6 were set to BOERJESON-FORSSMAN-LEHMANN SYNDROME 301900 |
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DDG2P v0.1 | PHF21A |
Rebecca Foulger gene: PHF21A was added gene: PHF21A was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: PHF21A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PHF21A were set to POTOCKI-SHAFFER SYNDROME 601224 |
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DDG2P v0.1 | PHC1 |
Rebecca Foulger gene: PHC1 was added gene: PHC1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: PHC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PHC1 were set to 23418308 Phenotypes for gene: PHC1 were set to PRIMARY MICROCEPHALY 615414 Mode of pathogenicity for gene: PHC1 was set to Other - please provide details in the comments |
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DDG2P v0.1 | PGM3 |
Rebecca Foulger gene: PGM3 was added gene: PGM3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PGM3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PGM3 were set to 24931394 Phenotypes for gene: PGM3 were set to IMMUNODEFICIENCY 23 615816 |
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DDG2P v0.1 | PGM1 |
Rebecca Foulger gene: PGM1 was added gene: PGM1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PGM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PGM1 were set to 19625727 Phenotypes for gene: PGM1 were set to CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT 614921 |
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DDG2P v0.1 | PGK1 |
Rebecca Foulger gene: PGK1 was added gene: PGK1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PGK1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: PGK1 were set to 9512313; 6933565; 6941312; 8673469; 16740138; 19157875; 1586722; 16567715; 9744480; 1547346 Phenotypes for gene: PGK1 were set to PHOSPHOGLYCERATE KINASE 1 DEFICIENCY 300653 |
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DDG2P v0.1 | PGAP3 |
Rebecca Foulger gene: PGAP3 was added gene: PGAP3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PGAP3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PGAP3 were set to 24439110 Phenotypes for gene: PGAP3 were set to HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4 615716 |
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DDG2P v0.1 | PGAP2 |
Rebecca Foulger gene: PGAP2 was added gene: PGAP2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PGAP2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PGAP2 were set to INTELLECTUAL DISABILITY Mode of pathogenicity for gene: PGAP2 was set to Other - please provide details in the comments |
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DDG2P v0.1 | PGAP1 |
Rebecca Foulger gene: PGAP1 was added gene: PGAP1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: PGAP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PGAP1 were set to 24784135; 26050939; 25804403 Phenotypes for gene: PGAP1 were set to Intellectual disability, encephalopathy, impaired GPI-anchor maturation |
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DDG2P v0.1 | PEX7 |
Rebecca Foulger gene: PEX7 was added gene: PEX7 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PEX7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX7 were set to REFSUM DISEASE 266500 |
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DDG2P v0.1 | PEX6 |
Rebecca Foulger gene: PEX6 was added gene: PEX6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PEX6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX6 were set to ZELLWEGER SYNDROME 214100 |
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DDG2P v0.1 | PEX5 |
Rebecca Foulger gene: PEX5 was added gene: PEX5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PEX5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PEX5 were set to 7719337 Phenotypes for gene: PEX5 were set to ADRENOLEUKODYSTROPHY NEONATAL 202370 |
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DDG2P v0.1 | PEX3 |
Rebecca Foulger gene: PEX3 was added gene: PEX3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PEX3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX3 were set to PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 12 603164 |
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DDG2P v0.1 | PEX26 |
Rebecca Foulger gene: PEX26 was added gene: PEX26 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PEX26 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX26 were set to INFANTILE REFSUM DISEASE 266510 |
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DDG2P v0.1 | PEX2 |
Rebecca Foulger gene: PEX2 was added gene: PEX2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PEX2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX2 were set to ZELLWEGER SYNDROME 214100 |
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DDG2P v0.1 | PEX19 |
Rebecca Foulger gene: PEX19 was added gene: PEX19 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PEX19 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX19 were set to ZELLWEGER SYNDROME 214100 |
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DDG2P v0.1 | PEX16 |
Rebecca Foulger gene: PEX16 was added gene: PEX16 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PEX16 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX16 were set to PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 9 603360 |
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DDG2P v0.1 | PEX14 |
Rebecca Foulger gene: PEX14 was added gene: PEX14 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PEX14 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX14 were set to ZELLWEGER SYNDROME 214100 |
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DDG2P v0.1 | PEX13 |
Rebecca Foulger gene: PEX13 was added gene: PEX13 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PEX13 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX13 were set to ADRENOLEUKODYSTROPHY NEONATAL 202370 |
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DDG2P v0.1 | PEX12 |
Rebecca Foulger gene: PEX12 was added gene: PEX12 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PEX12 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX12 were set to ZELLWEGER SYNDROME 214100 |
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DDG2P v0.1 | PEX11B |
Rebecca Foulger gene: PEX11B was added gene: PEX11B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PEX11B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PEX11B were set to 28129423; 22581968 Phenotypes for gene: PEX11B were set to Peroxisome biogenesis disorder 14B |
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DDG2P v0.1 | PEX10 |
Rebecca Foulger gene: PEX10 was added gene: PEX10 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PEX10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX10 were set to ADRENOLEUKODYSTROPHY NEONATAL 202370 |
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DDG2P v0.1 | PEX1 |
Rebecca Foulger gene: PEX1 was added gene: PEX1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PEX1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX1 were set to PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 1 602136 |
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DDG2P v0.1 | PET100 |
Rebecca Foulger gene: PET100 was added gene: PET100 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: PET100 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PET100 were set to MITOCHONDRIAL COMPLEX IV DEFICIENCY 220110 |
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DDG2P v0.1 | PEPD |
Rebecca Foulger gene: PEPD was added gene: PEPD was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PEPD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PEPD were set to 17142620; 16470701; 19308961; 6637477; 1972707; 8900231; 2365824; 15309682 Phenotypes for gene: PEPD were set to PROLIDASE DEFICIENCY 170100 |
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DDG2P v0.1 | PECR |
Rebecca Foulger gene: PECR was added gene: PECR was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: PECR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PECR were set to 21937992 Phenotypes for gene: PECR were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION Mode of pathogenicity for gene: PECR was set to Other - please provide details in the comments |
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DDG2P v0.1 | PDSS2 |
Rebecca Foulger gene: PDSS2 was added gene: PDSS2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PDSS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PDSS2 were set to 17186472 Phenotypes for gene: PDSS2 were set to COENZYME Q10 DEFICIENCY, PRIMARY, 3 614652 |
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DDG2P v0.1 | PDSS1 |
Rebecca Foulger gene: PDSS1 was added gene: PDSS1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: PDSS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PDSS1 were set to 17332895 Phenotypes for gene: PDSS1 were set to COENZYME Q10 DEFICIENCY, PRIMARY, 2 614651 Mode of pathogenicity for gene: PDSS1 was set to Other - please provide details in the comments |
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DDG2P v0.1 | PDHX |
Rebecca Foulger gene: PDHX was added gene: PDHX was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PDHX was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PDHX were set to 9399911; 9467010; 16566017; 8229524; 8584393; 11935326; 17152059; 21937992; 12557299 Phenotypes for gene: PDHX were set to LACTICACIDEMIA DUE TO PDX1 DEFICIENCY 245349 |
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DDG2P v0.1 | PDHA1 |
Rebecca Foulger gene: PDHA1 was added gene: PDHA1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PDHA1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: PDHA1 were set to 1909778; 8199595; 8032855; 3137520; 1907799; 2378353; 10486093; 12379317; 7573035; 1909401; 1293379; 2537010; 9686362; 8771169 Phenotypes for gene: PDHA1 were set to X-LINKED LEIGH SYNDROME 312170 |
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DDG2P v0.1 | PDGFRB |
Rebecca Foulger gene: PDGFRB was added gene: PDGFRB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PDGFRB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PDGFRB were set to 23731542 Phenotypes for gene: PDGFRB were set to FAMILIAL INFANTILE MYOFIBROMATOSIS 228550 Mode of pathogenicity for gene: PDGFRB was set to Other - please provide details in the comments |
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DDG2P v0.1 | PDE6H |
Rebecca Foulger gene: PDE6H was added gene: PDE6H was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: PDE6H was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PDE6H were set to ACHROMATOPSIA |
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DDG2P v0.1 | PDE6G |
Rebecca Foulger gene: PDE6G was added gene: PDE6G was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PDE6G was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PDE6G were set to 20655036 Phenotypes for gene: PDE6G were set to RETINITIS PIGMENTOSA 57 613582 |
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DDG2P v0.1 | PDE4D |
Rebecca Foulger gene: PDE4D was added gene: PDE4D was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PDE4D was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PDE4D were set to 22464252; 22464250; 23033274 Phenotypes for gene: PDE4D were set to ACRODYSOSTOSIS 101800 Mode of pathogenicity for gene: PDE4D was set to Other - please provide details in the comments |
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DDG2P v0.1 | PDE10A |
Rebecca Foulger gene: PDE10A was added gene: PDE10A was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: PDE10A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PDE10A were set to 27058447 Phenotypes for gene: PDE10A were set to Childhood-Onset Chorea with Bilateral Striatal Lesions Mode of pathogenicity for gene: PDE10A was set to Other - please provide details in the comments |
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DDG2P v0.1 | PDCD10 |
Rebecca Foulger gene: PDCD10 was added gene: PDCD10 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PDCD10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PDCD10 were set to CEREBRAL CAVERNOUS MALFORMATIONS TYPE 3 603285 |
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DDG2P v0.1 | PCYT1A |
Rebecca Foulger gene: PCYT1A was added gene: PCYT1A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PCYT1A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PCYT1A were set to 24387990 Phenotypes for gene: PCYT1A were set to SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY 608940 |
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DDG2P v0.1 | PCNT |
Rebecca Foulger gene: PCNT was added gene: PCNT was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PCNT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PCNT were set to 18174396; 15372530; 19839044 Phenotypes for gene: PCNT were set to MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II 210720 |
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DDG2P v0.1 | PCGF2 |
Rebecca Foulger gene: PCGF2 was added gene: PCGF2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: PCGF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PCGF2 were set to INTELLECTUAL DUSBILITY Mode of pathogenicity for gene: PCGF2 was set to Other - please provide details in the comments |
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DDG2P v0.1 | PCDH19 |
Rebecca Foulger gene: PCDH19 was added gene: PCDH19 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PCDH19 was set to x-linked over-dominance Publications for gene: PCDH19 were set to 19214208; 5116697; 18469813; 19752159 Phenotypes for gene: PCDH19 were set to EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 9 300088 |
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DDG2P v0.1 | PCCB |
Rebecca Foulger gene: PCCB was added gene: PCCB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PCCB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PCCB were set to PROPIONIC ACIDEMIA 606054 |
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DDG2P v0.1 | PCCA |
Rebecca Foulger gene: PCCA was added gene: PCCA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PCCA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PCCA were set to 10820128; 8295402; 8225321; 10101253; 9683601; 9887338; 12189489; 17966092; 9385377; 8411997 Phenotypes for gene: PCCA were set to PROPIONIC ACIDEMIA 606054 |
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DDG2P v0.1 | PCBD1 |
Rebecca Foulger gene: PCBD1 was added gene: PCBD1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PCBD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PCBD1 were set to 8352282; 9585615 Phenotypes for gene: PCBD1 were set to HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D 264070 |
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DDG2P v0.1 | PC |
Rebecca Foulger gene: PC was added gene: PC was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PC were set to 12112657; 9585612; 9585002; 19306334 Phenotypes for gene: PC were set to PYRUVATE CARBOXYLASE DEFICIENCY 266150 |
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DDG2P v0.1 | PAX9 |
Rebecca Foulger gene: PAX9 was added gene: PAX9 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PAX9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PAX9 were set to TOOTH AGENESIS, SELECTIVE, 3 318869 |
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DDG2P v0.1 | PAX8 |
Rebecca Foulger gene: PAX8 was added gene: PAX8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PAX8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PAX8 were set to 15356023; 15718293; 11502839; 9590296; 11232006 Phenotypes for gene: PAX8 were set to CONGENITAL HYPOTHYROIDISM NON-GOITROUS TYPE 2 218700 |
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DDG2P v0.1 | PAX6 |
Rebecca Foulger gene: PAX6 was added gene: PAX6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PAX6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PAX6 were set to 7668281 Phenotypes for gene: PAX6 were set to KERATITIS HEREDITARY 148190 |
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DDG2P v0.1 | PAX3 |
Rebecca Foulger gene: PAX3 was added gene: PAX3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PAX3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PAX3 were set to 1347148; 1308353; 7726174; 8447316; 1303193; 1887852; 8490648; 20478267 Phenotypes for gene: PAX3 were set to WAARDENBURG SYNDROME, TYPE 1 193500 |
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DDG2P v0.1 | PAX2 |
Rebecca Foulger gene: PAX2 was added gene: PAX2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PAX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PAX2 were set to 11093271; 3377002; 2644560; 11461952; 9106533; 7795640; 9760197 Phenotypes for gene: PAX2 were set to RENAL-COLOBOMA SYNDROME 120330 |
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DDG2P v0.1 | PARP1 |
Rebecca Foulger gene: PARP1 was added gene: PARP1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: PARP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PARP1 were set to 21937992 Phenotypes for gene: PARP1 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION Mode of pathogenicity for gene: PARP1 was set to Other - please provide details in the comments |
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DDG2P v0.1 | PARN |
Rebecca Foulger gene: PARN was added gene: PARN was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PARN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PARN were set to 25893599 Phenotypes for gene: PARN were set to Dyskeratosis congenita, autosomal recessive 6 |
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DDG2P v0.1 | PAPSS2 |
Rebecca Foulger gene: PAPSS2 was added gene: PAPSS2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PAPSS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PAPSS2 were set to 22791835; 9714015; 19474428 Phenotypes for gene: PAPSS2 were set to SPONDYLOEPIMETAPHYSEAL DYSPLASIA PAKISTANI TYPE 612847 |
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DDG2P v0.1 | PALB2 |
Rebecca Foulger gene: PALB2 was added gene: PALB2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PALB2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PALB2 were set to 17200671; 17200672 Phenotypes for gene: PALB2 were set to FANCONI ANEMIA, COMPLEMENTATION GROUP N 610832 |
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DDG2P v0.1 | PAK3 |
Rebecca Foulger gene: PAK3 was added gene: PAK3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PAK3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: PAK3 were set to 24556213 Phenotypes for gene: PAK3 were set to AGENESIS OF THE CORPUS CALLOSUM |
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DDG2P v0.1 | PAH |
Rebecca Foulger gene: PAH was added gene: PAH was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PAH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PAH were set to 2840952; 1360590; 2884570; 1301201; 7981714; 8829656; 1769645; 3008810; 1358789; 1363838; 2574002; 8088845; 8097261; 1312992; 2564729; 1349576; 2044609; 1671881; 2014802; 2573272; 1679030; 9950317; 1301200; 8098245; 8364546; 1975559; 2309142; 1301193; 1671810; 1682235; 1709636; 2035532; 1363837; 2071149; 2816939; 1301947; 2606484; 11935335; 1997387 Phenotypes for gene: PAH were set to NON-PHENYLKETONURIA HYPERPHENYLALANINEMIA 261600 |
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DDG2P v0.1 | PAFAH1B1 |
Rebecca Foulger gene: PAFAH1B1 was added gene: PAFAH1B1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PAFAH1B1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PAFAH1B1 were set to 14581661; 10441340; 11502906; 15007136 Phenotypes for gene: PAFAH1B1 were set to LISSENCEPHALY TYPE 1 607432 |
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DDG2P v0.1 | PACS2 |
Rebecca Foulger gene: PACS2 was added gene: PACS2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: PACS2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PACS2 were set to 28867141 Phenotypes for gene: PACS2 were set to Unspecified Neurodevelopmental Disorder Mode of pathogenicity for gene: PACS2 was set to Other - please provide details in the comments |
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DDG2P v0.1 | PACS1 |
Rebecca Foulger gene: PACS1 was added gene: PACS1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: PACS1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PACS1 were set to 23159249 Phenotypes for gene: PACS1 were set to INTELLECTUAL DISABILITY Mode of pathogenicity for gene: PACS1 was set to Other - please provide details in the comments |
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DDG2P v0.1 | P4HB |
Rebecca Foulger gene: P4HB was added gene: P4HB was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: P4HB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: P4HB were set to 25683117 Phenotypes for gene: P4HB were set to COLE-CARPENTER SYNDROME 112240 Mode of pathogenicity for gene: P4HB was set to Other - please provide details in the comments |
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DDG2P v0.1 | P3H1 |
Rebecca Foulger gene: P3H1 was added gene: P3H1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: P3H1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: P3H1 were set to 17277775; 19088120 Phenotypes for gene: P3H1 were set to OSTEOGENESIS IMPERFECTA, TYPE VIII 610915 |
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DDG2P v0.1 | OXCT1 |
Rebecca Foulger gene: OXCT1 was added gene: OXCT1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: OXCT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OXCT1 were set to 23281106; 1405472; 9671268; 10964512 Phenotypes for gene: OXCT1 were set to SUCCINYL-COA-3-KETOACID-COA TRANSFERASE DEFICIENCY 245050 |
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DDG2P v0.1 | OTX2 |
Rebecca Foulger gene: OTX2 was added gene: OTX2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: OTX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: OTX2 were set to 18854396; 20396904; 19965921; 19956411; 15846561; 18628516 Phenotypes for gene: OTX2 were set to MICROPHTHALMIA SYNDROMIC TYPE 5 610125 |
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DDG2P v0.1 | OTULIN |
Rebecca Foulger gene: OTULIN was added gene: OTULIN was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: OTULIN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OTULIN were set to 27686184; 27523608; 27559085 Phenotypes for gene: OTULIN were set to Otulin-related auto inflammatory syndrome |
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DDG2P v0.1 | OTUD7A |
Rebecca Foulger gene: OTUD7A was added gene: OTUD7A was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: OTUD7A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: OTUD7A were set to 29395074 Phenotypes for gene: OTUD7A were set to 15q13.3 deletions phenocopy |
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DDG2P v0.1 | OTUD6B |
Rebecca Foulger gene: OTUD6B was added gene: OTUD6B was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: OTUD6B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OTUD6B were set to 28343629 Phenotypes for gene: OTUD6B were set to Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features |
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DDG2P v0.1 | OTOGL |
Rebecca Foulger gene: OTOGL was added gene: OTOGL was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: OTOGL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OTOGL were set to 23122586 Phenotypes for gene: OTOGL were set to MODERATE SENSORINEURAL HEARING LOSS 614944 |
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DDG2P v0.1 | OTC |
Rebecca Foulger gene: OTC was added gene: OTC was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: OTC was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: OTC were set to 10405441; 3170748; 1721894; 2347583; 2843770; 1353535; 1480464; 11260212; 2035531; 9056557; 2037279; 7860064 Phenotypes for gene: OTC were set to ORNITHINE TRANSCARBAMYLASE DEFICIENCY 311250 |
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DDG2P v0.1 | OSGEP |
Rebecca Foulger gene: OSGEP was added gene: OSGEP was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: OSGEP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OSGEP were set to 28805828 Phenotypes for gene: OSGEP were set to Nephrotic syndrome with primary microcephaly Mode of pathogenicity for gene: OSGEP was set to Other - please provide details in the comments |
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DDG2P v0.1 | ORC6 |
Rebecca Foulger gene: ORC6 was added gene: ORC6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ORC6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ORC6 were set to 7710253 Phenotypes for gene: ORC6 were set to MEIER-GORLIN SYNDROME 3 613803 |
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DDG2P v0.1 | ORC4 |
Rebecca Foulger gene: ORC4 was added gene: ORC4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ORC4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ORC4 were set to 11477602 Phenotypes for gene: ORC4 were set to MEIER-GORLIN SYNDROME 2 613800 |
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DDG2P v0.1 | ORC1 |
Rebecca Foulger gene: ORC1 was added gene: ORC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ORC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ORC1 were set to 21358633 Phenotypes for gene: ORC1 were set to MEIER-GORLIN SYNDROME 1 224690 |
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DDG2P v0.1 | OPHN1 |
Rebecca Foulger gene: OPHN1 was added gene: OPHN1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: OPHN1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: OPHN1 were set to 12805098; 12807966; 16158428; 20528889; 9582072 Phenotypes for gene: OPHN1 were set to MENTAL RETARDATION X-LINKED OPHN1-RELATED 300486 |
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DDG2P v0.1 | OFD1 |
Rebecca Foulger gene: OFD1 was added gene: OFD1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: OFD1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: OFD1 were set to 9198060; 15221448; 9482645; 11179005; 11950863 Phenotypes for gene: OFD1 were set to ORAL-FACIAL-DIGITAL SYNDROME TYPE 1 311200 |
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DDG2P v0.1 | OCRL |
Rebecca Foulger gene: OCRL was added gene: OCRL was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: OCRL was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: OCRL were set to 9632163 Phenotypes for gene: OCRL were set to LOWE OCULOCEREBRORENAL SYNDROME 309000 |
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DDG2P v0.1 | OBSL1 |
Rebecca Foulger gene: OBSL1 was added gene: OBSL1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: OBSL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OBSL1 were set to 19481195 Phenotypes for gene: OBSL1 were set to 3-M SYNDROME 2 612921 |
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DDG2P v0.1 | NYX |
Rebecca Foulger gene: NYX was added gene: NYX was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NYX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: NYX were set to 11062471; 16670814; 11062472 Phenotypes for gene: NYX were set to NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A 310500 |
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DDG2P v0.1 | NUS1 |
Rebecca Foulger gene: NUS1 was added gene: NUS1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: NUS1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NUS1 were set to 29100083 Phenotypes for gene: NUS1 were set to Epilepsy and intellectual disability |
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DDG2P v0.1 | NUP62 |
Rebecca Foulger gene: NUP62 was added gene: NUP62 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: NUP62 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NUP62 were set to 16786527 Phenotypes for gene: NUP62 were set to INFANTILE STRIATONIGRAL DEGENERATION 271930 Mode of pathogenicity for gene: NUP62 was set to Other - please provide details in the comments |
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DDG2P v0.1 | NUP107 |
Rebecca Foulger gene: NUP107 was added gene: NUP107 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NUP107 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NUP107 were set to 26411495 Phenotypes for gene: NUP107 were set to EARLY-CHILDHOOD-ONSET STEROID-RESISTANT NEPHROTIC SYNDROME |
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DDG2P v0.1 | NUBPL |
Rebecca Foulger gene: NUBPL was added gene: NUBPL was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NUBPL was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NUBPL were set to MITOCHONDRIAL COMPLEX I DEFICIENCY 252010 |
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DDG2P v0.1 | NTRK2 |
Rebecca Foulger gene: NTRK2 was added gene: NTRK2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: NTRK2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NTRK2 were set to 29100083 Phenotypes for gene: NTRK2 were set to Epilepsy and intellectual disability Mode of pathogenicity for gene: NTRK2 was set to Other - please provide details in the comments |
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DDG2P v0.1 | NTRK1 |
Rebecca Foulger gene: NTRK1 was added gene: NTRK1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NTRK1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NTRK1 were set to 10330344; 19250380; 10233776; 10861667; 10982191; 8696348; 10090906 Phenotypes for gene: NTRK1 were set to CONGENITAL INSENSITIVITY TO PAIN WITH ANHIDROSIS 256800 |
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DDG2P v0.1 | NT5C3A |
Rebecca Foulger gene: NT5C3A was added gene: NT5C3A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NT5C3A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NT5C3A were set to HEMOLYTIC ANEMIA DUE TO UMPH1 DEFICIENCY 266120 |
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DDG2P v0.1 | NSUN2 |
Rebecca Foulger gene: NSUN2 was added gene: NSUN2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: NSUN2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NSUN2 were set to 22541562; 22577224; 22541559; 21063731 Phenotypes for gene: NSUN2 were set to AUTOSOMAL- RECESSIVE INTELLECTUAL DISABILITY MRT5 611091 Mode of pathogenicity for gene: NSUN2 was set to Other - please provide details in the comments |
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DDG2P v0.1 | NSMCE3 |
Rebecca Foulger gene: NSMCE3 was added gene: NSMCE3 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: NSMCE3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NSMCE3 were set to DISTINCT DNA BREAKAGE SYNDROME Mode of pathogenicity for gene: NSMCE3 was set to Other - please provide details in the comments |
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DDG2P v0.1 | NSDHL |
Rebecca Foulger gene: NSDHL was added gene: NSDHL was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NSDHL was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: NSDHL were set to 19377476; 19842190 Phenotypes for gene: NSDHL were set to CK SYNDROME 300831 |
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DDG2P v0.1 | NSD1 |
Rebecca Foulger gene: NSD1 was added gene: NSD1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NSD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: NSD1 were set to WEAVER SYNDROME 277590 |
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DDG2P v0.1 | NRXN3 |
Rebecca Foulger gene: NRXN3 was added gene: NRXN3 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: NRXN3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NRXN3 were set to 22209245 Phenotypes for gene: NRXN3 were set to AUTISM 209850 |
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DDG2P v0.1 | NRXN2 |
Rebecca Foulger gene: NRXN2 was added gene: NRXN2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: NRXN2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: NRXN2 were set to AUTISM 209850 |
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DDG2P v0.1 | NRXN1 |
Rebecca Foulger gene: NRXN1 was added gene: NRXN1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: NRXN1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: NRXN1 were set to AUTISM 209850 |
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DDG2P v0.1 | NRAS |
Rebecca Foulger gene: NRAS was added gene: NRAS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NRAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NRAS were set to 19966803 Phenotypes for gene: NRAS were set to NOONAN SYNDROME TYPE 6 613224 Mode of pathogenicity for gene: NRAS was set to Other - please provide details in the comments |
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DDG2P v0.1 | NR5A1 |
Rebecca Foulger gene: NR5A1 was added gene: NR5A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NR5A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: NR5A1 were set to 46XY SEX REVERSAL 3 612965 Mode of pathogenicity for gene: NR5A1 was set to Other - please provide details in the comments |
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DDG2P v0.1 | NR2F2 |
Rebecca Foulger gene: NR2F2 was added gene: NR2F2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NR2F2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NR2F2 were set to 24702954 Phenotypes for gene: NR2F2 were set to CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4 615779 |
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DDG2P v0.1 | NR2F1 |
Rebecca Foulger gene: NR2F1 was added gene: NR2F1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NR2F1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NR2F1 were set to 24462372 Phenotypes for gene: NR2F1 were set to BOSCH-BOONSTRA OPTIC ATROPHY SYNDROME 615722 |
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DDG2P v0.1 | NR1I3 |
Rebecca Foulger gene: NR1I3 was added gene: NR1I3 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: NR1I3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: NR1I3 were set to EHMT1-LIKE INTELLECTUAL DISABILITY Mode of pathogenicity for gene: NR1I3 was set to Other - please provide details in the comments |
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DDG2P v0.1 | NPR2 |
Rebecca Foulger gene: NPR2 was added gene: NPR2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NPR2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NPR2 were set to ACROMESOMELIC DYSPLASIA MAROTEAUX TYPE 602875 |
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DDG2P v0.1 | NPHS2 |
Rebecca Foulger gene: NPHS2 was added gene: NPHS2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NPHS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NPHS2 were set to 12464671; 8589695; 8606597; 10742096 Phenotypes for gene: NPHS2 were set to NEPHROTIC SYNDROME, TYPE 2 600995 |
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DDG2P v0.1 | NPHS1 |
Rebecca Foulger gene: NPHS1 was added gene: NPHS1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NPHS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NPHS1 were set to 17290294; 11854170; 10577936; 9660941; 10652016 Phenotypes for gene: NPHS1 were set to NEPHROTIC SYNDROME TYPE 1 256300 |
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DDG2P v0.1 | NPHP4 |
Rebecca Foulger gene: NPHP4 was added gene: NPHP4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NPHP4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NPHP4 were set to 12244321 Phenotypes for gene: NPHP4 were set to NEPHRONOPHTHISIS TYPE 4 606966 |
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DDG2P v0.1 | NPHP3 |
Rebecca Foulger gene: NPHP3 was added gene: NPHP3 was added to DDG2P. Sources: Mode of inheritance for gene: NPHP3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NPHP3 were set to MECKEL SYNDROME TYPE 7 267010 |
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DDG2P v0.1 | NPHP1 |
Rebecca Foulger gene: NPHP1 was added gene: NPHP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NPHP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NPHP1 were set to SENIOR-LOKEN SYNDROME TYPE 1 266900 |
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DDG2P v0.1 | NPC2 |
Rebecca Foulger gene: NPC2 was added gene: NPC2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NPC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NPC2 were set to 11125141; 11567215; 12447927; 17470133 Phenotypes for gene: NPC2 were set to NIEMANN-PICK DISEASE, TYPE C2 607625 |
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DDG2P v0.1 | NPC1 |
Rebecca Foulger gene: NPC1 was added gene: NPC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NPC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NPC1 were set to 10480349; 11333381; 11349231; 12554680; 9245994; 11479732; 10521297; 9211849 Phenotypes for gene: NPC1 were set to NIEMANN-PICK DISEASE, TYPE C1 257220 |
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DDG2P v0.1 | NOVA2 |
Rebecca Foulger gene: NOVA2 was added gene: NOVA2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: NOVA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: NOVA2 were set to Intellectual disability with ataxia/spasticity |
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DDG2P v0.1 | NOTCH3 |
Rebecca Foulger gene: NOTCH3 was added gene: NOTCH3 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: NOTCH3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NOTCH3 were set to 23731542 Phenotypes for gene: NOTCH3 were set to INFANTILE MYOFIBROMATOSIS 615293 Mode of pathogenicity for gene: NOTCH3 was set to Other - please provide details in the comments |
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DDG2P v0.1 | NOTCH2 |
Rebecca Foulger gene: NOTCH2 was added gene: NOTCH2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NOTCH2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NOTCH2 were set to 21712856; 21378989; 21378985 Phenotypes for gene: NOTCH2 were set to HAJDU-CHENEY SYNDROME 102500 Mode of pathogenicity for gene: NOTCH2 was set to Other - please provide details in the comments |
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DDG2P v0.1 | NOTCH1 |
Rebecca Foulger gene: NOTCH1 was added gene: NOTCH1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: NOTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NOTCH1 were set to 16025100 Phenotypes for gene: NOTCH1 were set to LEFT VENTRICULAR OUTFLOW TRACT OBSTRUCTION 109730 |
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DDG2P v0.1 | NOP10 |
Rebecca Foulger gene: NOP10 was added gene: NOP10 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: NOP10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NOP10 were set to 17507419 Phenotypes for gene: NOP10 were set to DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1 224230 Mode of pathogenicity for gene: NOP10 was set to Other - please provide details in the comments |
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DDG2P v0.1 | NONO |
Rebecca Foulger gene: NONO was added gene: NONO was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: NONO was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: NONO were set to 26571461; 27329731 Phenotypes for gene: NONO were set to SYNDROMIC INTELLECTUAL DISABILITY 612100 |
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DDG2P v0.1 | NOG |
Rebecca Foulger gene: NOG was added gene: NOG was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NOG was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: NOG were set to SYMPHALANGISM PROXIMAL SYNDROME 185800 |
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DDG2P v0.1 | NODAL |
Rebecca Foulger gene: NODAL was added gene: NODAL was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NODAL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: NODAL were set to HETEROTAXY SYNDROME 207574 |
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DDG2P v0.1 | NMNAT1 |
Rebecca Foulger gene: NMNAT1 was added gene: NMNAT1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NMNAT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NMNAT1 were set to 22842227; 22842230; 12734549 Phenotypes for gene: NMNAT1 were set to LEBER CONGENITAL AMAUROSIS 608553 |
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DDG2P v0.1 | NLRP5 |
Rebecca Foulger gene: NLRP5 was added gene: NLRP5 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: NLRP5 was set to Publications for gene: NLRP5 were set to 26323243 Phenotypes for gene: NLRP5 were set to Multilocus imprinting disorder |
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DDG2P v0.1 | NLGN4X |
Rebecca Foulger gene: NLGN4X was added gene: NLGN4X was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: NLGN4X was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: NLGN4X were set to SUSCEPTIBILITY TO AUTISM X-LINKED TYPE 2 300495 |
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DDG2P v0.1 | NLGN3 |
Rebecca Foulger gene: NLGN3 was added gene: NLGN3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: NLGN3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: NLGN3 were set to 12669065 Phenotypes for gene: NLGN3 were set to AUTISM SPECTRUM DISORDERS 198890 |
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DDG2P v0.1 | NKX6-2 |
Rebecca Foulger gene: NKX6-2 was added gene: NKX6-2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: NKX6-2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NKX6-2 were set to 28575651 Phenotypes for gene: NKX6-2 were set to Progressive Spastic Ataxia and Hypomyelination |
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DDG2P v0.1 | NKX3-2 |
Rebecca Foulger gene: NKX3-2 was added gene: NKX3-2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NKX3-2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NKX3-2 were set to SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA 613330 |
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DDG2P v0.1 | NKX2-5 |
Rebecca Foulger gene: NKX2-5 was added gene: NKX2-5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NKX2-5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: NKX2-5 were set to ATRIAL SEPTAL DEFECT WITH ATRIOVENTRICULAR CONDUCTION DEFECTS 108900 |
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DDG2P v0.1 | NKX2-1 |
Rebecca Foulger gene: NKX2-1 was added gene: NKX2-1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NKX2-1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: NKX2-1 were set to BENIGN HEREDITARY CHOREA 118700 |
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DDG2P v0.1 | NIPBL |
Rebecca Foulger gene: NIPBL was added gene: NIPBL was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NIPBL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NIPBL were set to 15146185; 16799922; 15146186; 15318302; 11391654 Phenotypes for gene: NIPBL were set to CORNELIA DE LANGE SYNDROME TYPE 1 122470 |
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DDG2P v0.1 | NHS |
Rebecca Foulger gene: NHS was added gene: NHS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NHS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: NHS were set to 15623749; 458526; 14564667; 2246772 Phenotypes for gene: NHS were set to NANCE-HORAN SYNDROME 302350 |
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DDG2P v0.1 | NHP2 |
Rebecca Foulger gene: NHP2 was added gene: NHP2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: NHP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NHP2 were set to 18523010 Phenotypes for gene: NHP2 were set to DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2 613987 Mode of pathogenicity for gene: NHP2 was set to Other - please provide details in the comments |
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DDG2P v0.1 | NGLY1 |
Rebecca Foulger gene: NGLY1 was added gene: NGLY1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NGLY1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NGLY1 were set to 24651605 Phenotypes for gene: NGLY1 were set to CONGENITAL DISORDER OF DEGLYCOSYLATION 615273 |
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DDG2P v0.1 | NFU1 |
Rebecca Foulger gene: NFU1 was added gene: NFU1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NFU1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NFU1 were set to 22077971; 11156534 Phenotypes for gene: NFU1 were set to MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 605711 Mode of pathogenicity for gene: NFU1 was set to Other - please provide details in the comments |
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DDG2P v0.1 | NFIX |
Rebecca Foulger gene: NFIX was added gene: NFIX was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NFIX was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NFIX were set to 22301465; 20673863 Phenotypes for gene: NFIX were set to SOTOS-LIKE SYNDROME 614753 |
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DDG2P v0.1 | NFIA |
Rebecca Foulger gene: NFIA was added gene: NFIA was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: NFIA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NFIA were set to 17530927 Phenotypes for gene: NFIA were set to CHROMOSOME 1P32-P31 DELETION SYNDROME 613735 |
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DDG2P v0.1 | NF1 |
Rebecca Foulger gene: NF1 was added gene: NF1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NF1 were set to 12707950; 19845691 Phenotypes for gene: NF1 were set to NEUROFIBROMATOSIS-NOONAN SYNDROME 601321 |
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DDG2P v0.1 | NEXMIF |
Rebecca Foulger gene: NEXMIF was added gene: NEXMIF was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: NEXMIF was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: NEXMIF were set to 15466006; 23615299 Phenotypes for gene: NEXMIF were set to KIAA2022 300912 |
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DDG2P v0.1 | NEU1 |
Rebecca Foulger gene: NEU1 was added gene: NEU1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NEU1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NEU1 were set to 10767332; 8985184; 14695530; 10944856; 9054950; 11470272; 11702224; 11829139 Phenotypes for gene: NEU1 were set to SIALIDOSIS 256550 |
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DDG2P v0.1 | NEK8 |
Rebecca Foulger gene: NEK8 was added gene: NEK8 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: NEK8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NEK8 were set to 18199800 Phenotypes for gene: NEK8 were set to NEPHRONOPHTHISIS 9 613824 |
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DDG2P v0.1 | NEK1 |
Rebecca Foulger gene: NEK1 was added gene: NEK1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NEK1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NEK1 were set to SHORT RIB-POLYDACTYLY SYNDORME, TYPE II 263520 |
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DDG2P v0.1 | NEDD4L |
Rebecca Foulger gene: NEDD4L was added gene: NEDD4L was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: NEDD4L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NEDD4L were set to 23934111; 28515470; 27694961 Phenotypes for gene: NEDD4L were set to Periventricular nodular heterotopia with ID, cleft palate and 2.3 toe syndactyly Mode of pathogenicity for gene: NEDD4L was set to Other - please provide details in the comments |
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DDG2P v0.1 | NECTIN4 |
Rebecca Foulger gene: NECTIN4 was added gene: NECTIN4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NECTIN4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NECTIN4 were set to 1646587; 21346770; 20691405 Phenotypes for gene: NECTIN4 were set to ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1 613573 |
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DDG2P v0.1 | NECTIN1 |
Rebecca Foulger gene: NECTIN1 was added gene: NECTIN1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: NECTIN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NECTIN1 were set to 10932188 Phenotypes for gene: NECTIN1 were set to CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME 225060 |
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DDG2P v0.1 | NEB |
Rebecca Foulger gene: NEB was added gene: NEB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NEB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NEB were set to 27105866; 27933661; 10051637 Phenotypes for gene: NEB were set to AUTOSOMAL RECESSIVE TYPICAL NEMALINE MYOPATHY 256030 |
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DDG2P v0.1 | NDUFV1 |
Rebecca Foulger gene: NDUFV1 was added gene: NDUFV1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NDUFV1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFV1 were set to MITOCHONDRIAL COMPLEX I DEFICIENCY 252010 Mode of pathogenicity for gene: NDUFV1 was set to Other - please provide details in the comments |
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DDG2P v0.1 | NDUFS8 |
Rebecca Foulger gene: NDUFS8 was added gene: NDUFS8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NDUFS8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFS8 were set to MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY 252010 Mode of pathogenicity for gene: NDUFS8 was set to Other - please provide details in the comments |
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DDG2P v0.1 | NDUFS7 |
Rebecca Foulger gene: NDUFS7 was added gene: NDUFS7 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NDUFS7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFS7 were set to MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY 252010 |
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DDG2P v0.1 | NDUFS4 |
Rebecca Foulger gene: NDUFS4 was added gene: NDUFS4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NDUFS4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFS4 were set to MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY 252010 |
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DDG2P v0.1 | NDUFS1 |
Rebecca Foulger gene: NDUFS1 was added gene: NDUFS1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NDUFS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFS1 were set to LEIGH SYNDROME 256000 |
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DDG2P v0.1 | NDUFB11 |
Rebecca Foulger gene: NDUFB11 was added gene: NDUFB11 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: NDUFB11 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: NDUFB11 were set to 25772934 Phenotypes for gene: NDUFB11 were set to MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME |
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DDG2P v0.1 | NDUFAF2 |
Rebecca Foulger gene: NDUFAF2 was added gene: NDUFAF2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: NDUFAF2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFAF2 were set to LEIGH SYNDROME 256000 |
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DDG2P v0.1 | NDUFA9 |
Rebecca Foulger gene: NDUFA9 was added gene: NDUFA9 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: NDUFA9 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFA9 were set to LEIGH SYNDROME 256000 Mode of pathogenicity for gene: NDUFA9 was set to Other - please provide details in the comments |
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DDG2P v0.1 | NDUFA10 |
Rebecca Foulger gene: NDUFA10 was added gene: NDUFA10 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: NDUFA10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFA10 were set to LEIGH SYNDROME DUP 256000 Mode of pathogenicity for gene: NDUFA10 was set to Other - please provide details in the comments |
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DDG2P v0.1 | NDUFA1 |
Rebecca Foulger gene: NDUFA1 was added gene: NDUFA1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NDUFA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: NDUFA1 were set to MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY 252010 |
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DDG2P v0.1 | NDST1 |
Rebecca Foulger gene: NDST1 was added gene: NDST1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: NDST1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDST1 were set to 21937992 Phenotypes for gene: NDST1 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION Mode of pathogenicity for gene: NDST1 was set to Other - please provide details in the comments |
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DDG2P v0.1 | NDP |
Rebecca Foulger gene: NDP was added gene: NDP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NDP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: NDP were set to 8240113; 1307245; 1303264; 8069314; 17334993; 8268931; 8790105; 7814011; 9143918; 8990009; 9382152 Phenotypes for gene: NDP were set to NORRIE DISEASE 310600 |
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DDG2P v0.1 | NDE1 |
Rebecca Foulger gene: NDE1 was added gene: NDE1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NDE1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDE1 were set to 21529751; 21529752 Phenotypes for gene: NDE1 were set to LISSENCEPHALY 4 614019 |
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DDG2P v0.1 | NCAPH |
Rebecca Foulger gene: NCAPH was added gene: NCAPH was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: NCAPH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NCAPH were set to 27737959 Phenotypes for gene: NCAPH were set to microcephaly |
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DDG2P v0.1 | NCAPD3 |
Rebecca Foulger gene: NCAPD3 was added gene: NCAPD3 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: NCAPD3 was set to Publications for gene: NCAPD3 were set to 27737959 Phenotypes for gene: NCAPD3 were set to Microcephaly with short stature |
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DDG2P v0.1 | NCAPD2 |
Rebecca Foulger gene: NCAPD2 was added gene: NCAPD2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: NCAPD2 was set to Publications for gene: NCAPD2 were set to 27737959 Phenotypes for gene: NCAPD2 were set to Microcephaly with short stature |
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DDG2P v0.1 | NBN |
Rebecca Foulger gene: NBN was added gene: NBN was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NBN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NBN were set to 3802554; 9590180 Phenotypes for gene: NBN were set to NIJMEGEN BREAKAGE SYNDROME 251260 |
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DDG2P v0.1 | NBAS |
Rebecca Foulger gene: NBAS was added gene: NBAS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NBAS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NBAS were set to 26073778 Phenotypes for gene: NBAS were set to ACUTE LIVER FAILURE (ALF) IN INFANCY AND CHILDHOOD |
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DDG2P v0.1 | NAXE |
Rebecca Foulger gene: NAXE was added gene: NAXE was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: NAXE was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NAXE were set to 27616477 Phenotypes for gene: NAXE were set to Lethal Neurometabolic Disorder of Early Childhood |
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DDG2P v0.1 | NANS |
Rebecca Foulger gene: NANS was added gene: NANS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NANS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NANS were set to 27213289 Phenotypes for gene: NANS were set to infantile-onset severe developmental delay and skeletal dysplasia |
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DDG2P v0.1 | NALCN |
Rebecca Foulger gene: NALCN was added gene: NALCN was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NALCN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: NALCN were set to 25683120 Phenotypes for gene: NALCN were set to CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY 616266 |
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DDG2P v0.1 | NAGS |
Rebecca Foulger gene: NAGS was added gene: NAGS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NAGS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NAGS were set to 12754705; 12594532 Phenotypes for gene: NAGS were set to N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY 237310 |
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DDG2P v0.1 | NAGLU |
Rebecca Foulger gene: NAGLU was added gene: NAGLU was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NAGLU was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NAGLU were set to 12202988; 11068184; 10094189; 9832037; 8650226; 21937992 Phenotypes for gene: NAGLU were set to MUCOPOLYSACCHARIDOSIS TYPE 3B 252920 |
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DDG2P v0.1 | NAGA |
Rebecca Foulger gene: NAGA was added gene: NAGA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NAGA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NAGA were set to 11251574; 8782044; 2564952 Phenotypes for gene: NAGA were set to KANZAKI DISEASE 609242 |
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DDG2P v0.1 | NADK2 |
Rebecca Foulger gene: NADK2 was added gene: NADK2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: NADK2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NADK2 were set to 24847004 Phenotypes for gene: NADK2 were set to Dienoyl-CoA reductase deficiency with hyperlysinemia |
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DDG2P v0.1 | NACC1 |
Rebecca Foulger gene: NACC1 was added gene: NACC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NACC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NACC1 were set to 28132692 Phenotypes for gene: NACC1 were set to Infantile Epilepsy, Cataracts, and Profound Developmental Delay Mode of pathogenicity for gene: NACC1 was set to Other - please provide details in the comments |
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DDG2P v0.1 | NAA15 |
Rebecca Foulger gene: NAA15 was added gene: NAA15 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: NAA15 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NAA15 were set to 28191889; 23665959 Phenotypes for gene: NAA15 were set to CONGENITAL HEART DISEASE and NEURODEVELOPMENTAL DISORDER |
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DDG2P v0.1 | NAA10 |
Rebecca Foulger gene: NAA10 was added gene: NAA10 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NAA10 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: NAA10 were set to 25099252 Phenotypes for gene: NAA10 were set to NONPECIFIC SEVERE ID |
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DDG2P v0.1 | MYT1L |
Rebecca Foulger gene: MYT1L was added gene: MYT1L was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: MYT1L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MYT1L were set to INTELLECTUAL DISABILITY |
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DDG2P v0.1 | MYT1 |
Rebecca Foulger gene: MYT1 was added gene: MYT1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: MYT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MYT1 were set to 27358179 Phenotypes for gene: MYT1 were set to OAVS/Goldenhar syndrome |
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DDG2P v0.1 | MYPN |
Rebecca Foulger gene: MYPN was added gene: MYPN was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: MYPN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYPN were set to 28017374 Phenotypes for gene: MYPN were set to Childhood-Onset, Slowly Progressive Nemaline Myopathy |
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DDG2P v0.1 | MYOC |
Rebecca Foulger gene: MYOC was added gene: MYOC was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: MYOC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MYOC were set to PRIMARY CONGENITAL GLAUCOMA TYPE 3A 231300 |
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DDG2P v0.1 | MYO7A |
Rebecca Foulger gene: MYO7A was added gene: MYO7A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MYO7A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYO7A were set to 9171833 Phenotypes for gene: MYO7A were set to DEAFNESS AUTOSOMAL RECESSIVE TYPE 2 600060 |
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DDG2P v0.1 | MYO5B |
Rebecca Foulger gene: MYO5B was added gene: MYO5B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MYO5B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYO5B were set to 18724368; 19006234 Phenotypes for gene: MYO5B were set to MICROVILLUS INCLUSION DISEASE 251850 |
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DDG2P v0.1 | MYO5A |
Rebecca Foulger gene: MYO5A was added gene: MYO5A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MYO5A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MYO5A were set to ELEJALDE SYNDROME 256710 |
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DDG2P v0.1 | MYLK |
Rebecca Foulger gene: MYLK was added gene: MYLK was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: MYLK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYLK were set to 28602422 Phenotypes for gene: MYLK were set to Megacystis Microcolon Intestinal Hypoperistalsis Syndrome |
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DDG2P v0.1 | MYH9 |
Rebecca Foulger gene: MYH9 was added gene: MYH9 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MYH9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MYH9 were set to DEAFNESS AUTOSOMAL DOMINANT TYPE 17 603622 |
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DDG2P v0.1 | MYH8 |
Rebecca Foulger gene: MYH8 was added gene: MYH8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MYH8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MYH8 were set to CARNEY COMPLEX VARIANT 608837 |
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DDG2P v0.1 | MYH6 |
Rebecca Foulger gene: MYH6 was added gene: MYH6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MYH6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MYH6 were set to ATRIAL SEPTAL DEFECT TYPE 3 160710 Mode of pathogenicity for gene: MYH6 was set to Other - please provide details in the comments |
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DDG2P v0.1 | MYH3 |
Rebecca Foulger gene: MYH3 was added gene: MYH3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MYH3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MYH3 were set to 16642020; 18695058 Phenotypes for gene: MYH3 were set to DISTAL ARTHROGRYPOSIS TYPE 2B 601680 Mode of pathogenicity for gene: MYH3 was set to Other - please provide details in the comments |
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DDG2P v0.1 | MYH11 |
Rebecca Foulger gene: MYH11 was added gene: MYH11 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: MYH11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYH11 were set to 29575632; 25407000 Phenotypes for gene: MYH11 were set to Megacystis-microcolon-intestinal hypoperistalsis syndrome |
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DDG2P v0.1 | MYH10 |
Rebecca Foulger gene: MYH10 was added gene: MYH10 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: MYH10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MYH10 were set to 25356899; 25003005 Phenotypes for gene: MYH10 were set to MYH10-related Multiple congenital anomalies |
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DDG2P v0.1 | MYCN |
Rebecca Foulger gene: MYCN was added gene: MYCN was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MYCN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MYCN were set to 16906565; 18470948; 18671284; 15821734 Phenotypes for gene: MYCN were set to FEINGOLD SYNDROME TYPE 1 164280 |
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DDG2P v0.1 | MUT |
Rebecca Foulger gene: MUT was added gene: MUT was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MUT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MUT were set to 1977311; 16281286; 2881300; 1670635; 7951229; 7909321; 17966092; 1968706; 11528502; 16451139 Phenotypes for gene: MUT were set to METHYLMALONIC ACIDURIA TYPE MUT 251000 |
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DDG2P v0.1 | MT-TP |
Rebecca Foulger gene: MT-TP was added gene: MT-TP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene gene: MT-TP was set to MITOCHONDRIAL Phenotypes for gene: MT-TP were set to MERRF 545000 |
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DDG2P v0.1 | MTRR |
Rebecca Foulger gene: MTRR was added gene: MTRR was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MTRR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MTRR were set to 12555939; 15714522; 9501215 Phenotypes for gene: MTRR were set to HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE 236270 |
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DDG2P v0.1 | MTR |
Rebecca Foulger gene: MTR was added gene: MTR was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MTR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MTR were set to 8968736; 9683607; 8968737; 12068375 Phenotypes for gene: MTR were set to METHYLCOBALAMIN DEFICIENCY TYPE G 250940 |
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DDG2P v0.1 | MTOR |
Rebecca Foulger gene: MTOR was added gene: MTOR was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: MTOR was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MTOR were set to 23934111 Phenotypes for gene: MTOR were set to EPILEPTIC ENCEPHALOPATHY Mode of pathogenicity for gene: MTOR was set to Other - please provide details in the comments |
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DDG2P v0.1 | MTO1 |
Rebecca Foulger gene: MTO1 was added gene: MTO1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MTO1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MTO1 were set to 22608499 Phenotypes for gene: MTO1 were set to INFANTILE HYPERTROPHIC CARDIOMYOPATHY AND LACTIC ACIDOSIS 614702 |
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DDG2P v0.1 | MTMR14 |
Rebecca Foulger gene: MTMR14 was added gene: MTMR14 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: MTMR14 was set to Phenotypes for gene: MTMR14 were set to CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF 160150 Mode of pathogenicity for gene: MTMR14 was set to Other - please provide details in the comments |
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DDG2P v0.1 | MTM1 |
Rebecca Foulger gene: MTM1 was added gene: MTM1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MTM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: MTM1 were set to 12859411; 11552027; 12707446; 9450905; 7611280; 8640223; 10790201; 9285787 Phenotypes for gene: MTM1 were set to MYOTUBULAR MYOPATHY, X-LINKED 310400 |
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DDG2P v0.1 | MTHFR |
Rebecca Foulger gene: MTHFR was added gene: MTHFR was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MTHFR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MTHFR were set to METHYLENETETRAHYDROFOLATE REDUCTASE DEFICIENCY 236250 |
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DDG2P v0.1 | MTF1 |
Rebecca Foulger gene: MTF1 was added gene: MTF1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: MTF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MTF1 were set to INTELLECTUAL DISABILITY |
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DDG2P v0.1 | MSX2 |
Rebecca Foulger gene: MSX2 was added gene: MSX2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MSX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MSX2 were set to 14571277 Phenotypes for gene: MSX2 were set to ENLARGED PARIETAL FORAMINA/CRANIUM BIFIDUM 168550 |
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DDG2P v0.1 | MSX1 |
Rebecca Foulger gene: MSX1 was added gene: MSX1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MSX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MSX1 were set to 12807959; 15354328 Phenotypes for gene: MSX1 were set to CLEFT LIP +/- CLEFT PALATE 608874 |
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DDG2P v0.1 | MSL3 |
Rebecca Foulger gene: MSL3 was added gene: MSL3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MSL3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: MSL3 were set to 30224647 Phenotypes for gene: MSL3 were set to MSL3 syndrome |
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DDG2P v0.1 | MSI1 |
Rebecca Foulger gene: MSI1 was added gene: MSI1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: MSI1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MSI1 were set to 28572454 Phenotypes for gene: MSI1 were set to MSI1-associated Microcephaly Mode of pathogenicity for gene: MSI1 was set to Other - please provide details in the comments |
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DDG2P v0.1 | MRPS34 |
Rebecca Foulger gene: MRPS34 was added gene: MRPS34 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: MRPS34 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MRPS34 were set to 28777931 Phenotypes for gene: MRPS34 were set to Leigh Syndrome with Instability of the Small Mitoribosomal Subunit |
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DDG2P v0.1 | MRPS22 |
Rebecca Foulger gene: MRPS22 was added gene: MRPS22 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: MRPS22 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MRPS22 were set to 17873122 Phenotypes for gene: MRPS22 were set to COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5 611719 Mode of pathogenicity for gene: MRPS22 was set to Other - please provide details in the comments |
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DDG2P v0.1 | MRE11 |
Rebecca Foulger gene: MRE11 was added gene: MRE11 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MRE11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MRE11 were set to 10612394 Phenotypes for gene: MRE11 were set to ATAXIA TELANGIECTASIA-LIKE DISORDER 604391 |
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DDG2P v0.1 | MPV17 |
Rebecca Foulger gene: MPV17 was added gene: MPV17 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MPV17 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MPV17 were set to 18695062; 16582910 Phenotypes for gene: MPV17 were set to MITOCHONDRIAL DNA DEPLETION SYNDROME 6 256810 |
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DDG2P v0.1 | MPLKIP |
Rebecca Foulger gene: MPLKIP was added gene: MPLKIP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MPLKIP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MPLKIP were set to TRICHOTHIODYSTROPHY NON-PHOTOSENSITIVE TYPE 1 234050 |
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DDG2P v0.1 | MPI |
Rebecca Foulger gene: MPI was added gene: MPI was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MPI was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MPI were set to 9585601; 9525984; 3080572 Phenotypes for gene: MPI were set to CONGENITAL DISORDERS OF GLYCOSYLATION 612379 |
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DDG2P v0.1 | MPDZ |
Rebecca Foulger gene: MPDZ was added gene: MPDZ was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: MPDZ was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MPDZ were set to 23240096 Phenotypes for gene: MPDZ were set to HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2 615219 |
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DDG2P v0.1 | MPDU1 |
Rebecca Foulger gene: MPDU1 was added gene: MPDU1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MPDU1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MPDU1 were set to 11733556; 11733564 Phenotypes for gene: MPDU1 were set to CONGENITAL DISORDERS OF GLYCOSYLATION 612379 |
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DDG2P v0.1 | MORC2 |
Rebecca Foulger gene: MORC2 was added gene: MORC2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: MORC2 was set to Publications for gene: MORC2 were set to 26497905 Phenotypes for gene: MORC2 were set to MORC2 - axonal neuropathy |
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DDG2P v0.1 | MOGS |
Rebecca Foulger gene: MOGS was added gene: MOGS was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: MOGS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MOGS were set to CONGENITAL DISORDERS OF GLYCOSYLATION 612379 Mode of pathogenicity for gene: MOGS was set to Other - please provide details in the comments |
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DDG2P v0.1 | MOCS2 |
Rebecca Foulger gene: MOCS2 was added gene: MOCS2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MOCS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MOCS2 were set to MOLYBDENUM COFACTOR DEFICIENCY 603707 |
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DDG2P v0.1 | MOCS1 |
Rebecca Foulger gene: MOCS1 was added gene: MOCS1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MOCS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MOCS1 were set to MOLYBDENUM COFACTOR DEFICIENCY 603707 |
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DDG2P v0.1 | MNX1 |
Rebecca Foulger gene: MNX1 was added gene: MNX1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MNX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MNX1 were set to 9843207; 15216552; 10631160; 16906559; 7550324 Phenotypes for gene: MNX1 were set to CURRARINO SYNDROME 176450 |
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DDG2P v0.1 | MMP21 |
Rebecca Foulger gene: MMP21 was added gene: MMP21 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MMP21 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MMP21 were set to 26437028; 26437029; 26429889 Phenotypes for gene: MMP21 were set to MMP21-associated heterotaxy |
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DDG2P v0.1 | MMP14 |
Rebecca Foulger gene: MMP14 was added gene: MMP14 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: MMP14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MMP14 were set to 22922033 Phenotypes for gene: MMP14 were set to WINCHESTER SYNDROME Mode of pathogenicity for gene: MMP14 was set to Other - please provide details in the comments |
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DDG2P v0.1 | MMP13 |
Rebecca Foulger gene: MMP13 was added gene: MMP13 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MMP13 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: MMP13 were set to 8412645; 19615667 Phenotypes for gene: MMP13 were set to SPONDYLOEPIMETAPHYSEAL DYSPLASIA MISSOURI TYPE 602111 Mode of pathogenicity for gene: MMP13 was set to Other - please provide details in the comments |
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DDG2P v0.1 | MMADHC |
Rebecca Foulger gene: MMADHC was added gene: MMADHC was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MMADHC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MMADHC were set to METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA TYPE CBLD 277410 |
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DDG2P v0.1 | MMACHC |
Rebecca Foulger gene: MMACHC was added gene: MMACHC was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MMACHC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MMACHC were set to 16311595; 16714133; 11320193; 20631720 Phenotypes for gene: MMACHC were set to METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE 277400 |
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DDG2P v0.1 | MMAB |
Rebecca Foulger gene: MMAB was added gene: MMAB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MMAB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MMAB were set to 12471062 Phenotypes for gene: MMAB were set to METHYLMALONIC ACIDURIA TYPE CBLB 251110 |
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DDG2P v0.1 | MMAA |
Rebecca Foulger gene: MMAA was added gene: MMAA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MMAA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MMAA were set to 12438653 Phenotypes for gene: MMAA were set to METHYLMALONIC ACIDURIA TYPE CBLA 251100 |
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DDG2P v0.1 | MLYCD |
Rebecca Foulger gene: MLYCD was added gene: MLYCD was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MLYCD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MLYCD were set to MALONYL-COA DECARBOXYLASE DEFICIENCY 167676 |
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DDG2P v0.1 | MLC1 |
Rebecca Foulger gene: MLC1 was added gene: MLC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MLC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MLC1 were set to 11254442; 12189496; 14615938; 11935341; 21624973 Phenotypes for gene: MLC1 were set to LEUKOENCEPHALOPATHY MEGALENCEPHALIC WITH SUBCORTICAL CYSTS 604004 |
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DDG2P v0.1 | MKS1 |
Rebecca Foulger gene: MKS1 was added gene: MKS1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MKS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MKS1 were set to 17377820; 16415886 Phenotypes for gene: MKS1 were set to MECKEL SYNDROME TYPE 1 249000 |
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DDG2P v0.1 | MKKS |
Rebecca Foulger gene: MKKS was added gene: MKKS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MKKS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MKKS were set to 10802661 Phenotypes for gene: MKKS were set to MCKUSICK-KAUFMAN SYNDROME 236700 |
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DDG2P v0.1 | MITF |
Rebecca Foulger gene: MITF was added gene: MITF was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: MITF was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: MITF were set to 9158138 Phenotypes for gene: MITF were set to WAARDENBURG SYNDROME TYPE 2 WITH OCULAR ALBINISM 103470 |
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DDG2P v0.1 | MIR184 |
Rebecca Foulger gene: MIR184 was added gene: MIR184 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: MIR184 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MIR184 were set to 21996275 Phenotypes for gene: MIR184 were set to EDICT SYNDROME 614303; KERATOCONUS WITH CATARACT Mode of pathogenicity for gene: MIR184 was set to Other - please provide details in the comments |
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DDG2P v0.1 | MIR17HG |
Rebecca Foulger gene: MIR17HG was added gene: MIR17HG was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: MIR17HG was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MIR17HG were set to 21892160 Phenotypes for gene: MIR17HG were set to FEINGOLD SYNDROME 614326 |
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DDG2P v0.1 | MID1 |
Rebecca Foulger gene: MID1 was added gene: MID1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MID1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: MID1 were set to 17221865; 12545276; 15558842 Phenotypes for gene: MID1 were set to OPITZ G/BBB SYNDROME, X-LINKED 300000 |
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DDG2P v0.1 | MICU1 |
Rebecca Foulger gene: MICU1 was added gene: MICU1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MICU1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MICU1 were set to 24336167 Phenotypes for gene: MICU1 were set to MYOPATHY WITH EXTRAPYRAMIDAL SIGNS 615673 |
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DDG2P v0.1 | MGP |
Rebecca Foulger gene: MGP was added gene: MGP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MGP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MGP were set to 9916809; 15810001 Phenotypes for gene: MGP were set to KEUTEL SYNDROME 245150 |
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DDG2P v0.1 | MGAT2 |
Rebecca Foulger gene: MGAT2 was added gene: MGAT2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MGAT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MGAT2 were set to 11228641; 20684000; 8808595 Phenotypes for gene: MGAT2 were set to CONGENITAL DISORDER OF GLYCOSYLATION TYPE 2A 212066 |
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DDG2P v0.1 | MFSD8 |
Rebecca Foulger gene: MFSD8 was added gene: MFSD8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MFSD8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MFSD8 were set to MFSD8-RELATED NEURONAL CEROID-LIPOFUSCINOSIS 610951 |
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DDG2P v0.1 | MFSD2A |
Rebecca Foulger gene: MFSD2A was added gene: MFSD2A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MFSD2A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MFSD2A were set to 26005865 Phenotypes for gene: MFSD2A were set to MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE 616486 Mode of pathogenicity for gene: MFSD2A was set to Other - please provide details in the comments |
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DDG2P v0.1 | MFRP |
Rebecca Foulger gene: MFRP was added gene: MFRP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MFRP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MFRP were set to 1258954; 15976030 Phenotypes for gene: MFRP were set to NANOPHTHALMOS 2 609549 |
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DDG2P v0.1 | MESP2 |
Rebecca Foulger gene: MESP2 was added gene: MESP2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MESP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MESP2 were set to 18485326; 15122512 Phenotypes for gene: MESP2 were set to SPONDYLOCOSTAL DYSOSTOSIS TYPE 2 608681 |
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DDG2P v0.1 | MEOX1 |
Rebecca Foulger gene: MEOX1 was added gene: MEOX1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: MEOX1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MEOX1 were set to KLIPPEL-FEIL ANOMALY 118100 |
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DDG2P v0.1 | MEGF8 |
Rebecca Foulger gene: MEGF8 was added gene: MEGF8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MEGF8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MEGF8 were set to CARPENTER SYNDROME 201000 |
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DDG2P v0.1 | MEGF10 |
Rebecca Foulger gene: MEGF10 was added gene: MEGF10 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MEGF10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MEGF10 were set to 22101682; 17236770; 22371254 Phenotypes for gene: MEGF10 were set to MYOPATHY, EARLY-ONSET, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA 614399 |
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DDG2P v0.1 | MEF2C |
Rebecca Foulger gene: MEF2C was added gene: MEF2C was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MEF2C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MEF2C were set to 20513142; 23001426; 19592390 Phenotypes for gene: MEF2C were set to MENTAL RETARDATION-STEREOTYPIC MOVEMENTS-EPILEPSY AND/OR CEREBRAL MALFORMATIONS 613443 |
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DDG2P v0.1 | MED23 |
Rebecca Foulger gene: MED23 was added gene: MED23 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: MED23 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MED23 were set to MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 18 614249 Mode of pathogenicity for gene: MED23 was set to Other - please provide details in the comments |
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DDG2P v0.1 | MED17 |
Rebecca Foulger gene: MED17 was added gene: MED17 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: MED17 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MED17 were set to 20950787 Phenotypes for gene: MED17 were set to MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY 613668 Mode of pathogenicity for gene: MED17 was set to Other - please provide details in the comments |
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DDG2P v0.1 | MED13L |
Rebecca Foulger gene: MED13L was added gene: MED13L was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: MED13L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MED13L were set to 23403903 Phenotypes for gene: MED13L were set to INTELLECTUAL DISABILITY |
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DDG2P v0.1 | MED12 |
Rebecca Foulger gene: MED12 was added gene: MED12 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MED12 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: MED12 were set to 17334363 Phenotypes for gene: MED12 were set to OPITZ-KAVEGGIA SYNDROME 305450 Mode of pathogenicity for gene: MED12 was set to Other - please provide details in the comments |
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DDG2P v0.1 | MECR |
Rebecca Foulger gene: MECR was added gene: MECR was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: MECR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MECR were set to 27817865 Phenotypes for gene: MECR were set to Childhood-Onset Dystonia and Optic Atrophy |
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DDG2P v0.1 | MECP2 |
Rebecca Foulger gene: MECP2 was added gene: MECP2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MECP2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: MECP2 were set to 15034579; 10577905; 16630165; 10508514; 19034540; 5300597; 11313756; 18989701; 12481990; 10767337; 11214906; 11022934; 11930274; 10814718; 15857422; 10854091 Phenotypes for gene: MECP2 were set to RETT SYNDROME (RTT)[ 312750 |
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DDG2P v0.1 | MECOM |
Rebecca Foulger gene: MECOM was added gene: MECOM was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: MECOM was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MECOM were set to 26581901 Phenotypes for gene: MECOM were set to Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia Mode of pathogenicity for gene: MECOM was set to Other - please provide details in the comments |
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DDG2P v0.1 | MDH2 |
Rebecca Foulger gene: MDH2 was added gene: MDH2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: MDH2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MDH2 were set to 27989324 Phenotypes for gene: MDH2 were set to Early-Onset Severe Encephalopathy |
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DDG2P v0.1 | MCPH1 |
Rebecca Foulger gene: MCPH1 was added gene: MCPH1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MCPH1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MCPH1 were set to 12046007; 7693575; 11857108; 16311745; 20978018 Phenotypes for gene: MCPH1 were set to MICROCEPHALY PRIMARY TYPE 1 251200 |
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DDG2P v0.1 | MCOLN1 |
Rebecca Foulger gene: MCOLN1 was added gene: MCOLN1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MCOLN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MCOLN1 were set to 10441585; 15523648; 17239335; 10973263; 11030752 Phenotypes for gene: MCOLN1 were set to MUCOLIPIDOSIS IV 252650 |
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DDG2P v0.1 | MCEE |
Rebecca Foulger gene: MCEE was added gene: MCEE was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MCEE was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MCEE were set to 16752391 Phenotypes for gene: MCEE were set to METHYLMALONYL-COA EPIMERASE DEFICIENCY 251120 |
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DDG2P v0.1 | MCCC2 |
Rebecca Foulger gene: MCCC2 was added gene: MCCC2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MCCC2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MCCC2 were set to 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY 210210 |
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DDG2P v0.1 | MCCC1 |
Rebecca Foulger gene: MCCC1 was added gene: MCCC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MCCC1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MCCC1 were set to 3-METHYLCROTONYL-COA CARBOXYLASE DEFICIENCY 210200 |
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DDG2P v0.1 | MC2R |
Rebecca Foulger gene: MC2R was added gene: MC2R was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MC2R was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MC2R were set to 8227361; 18407210; 12213892; 18492762; 8636348; 8094489 Phenotypes for gene: MC2R were set to GLUCOCORTICOID DEFICIENCY 1 202200 |
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DDG2P v0.1 | MBOAT7 |
Rebecca Foulger gene: MBOAT7 was added gene: MBOAT7 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: MBOAT7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MBOAT7 were set to 27616480 Phenotypes for gene: MBOAT7 were set to Intellectual Disability Accompanied by Epilepsy and Autistic Features |
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DDG2P v0.1 | MBD5 |
Rebecca Foulger gene: MBD5 was added gene: MBD5 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: MBD5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MBD5 were set to EHMT1-LIKE INTELLECTUAL DISABILITY |
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DDG2P v0.1 | MATN3 |
Rebecca Foulger gene: MATN3 was added gene: MATN3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MATN3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MATN3 were set to 15948199; 11479597; 13849708; 14729835 Phenotypes for gene: MATN3 were set to MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 5 607078 Mode of pathogenicity for gene: MATN3 was set to Other - please provide details in the comments |
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DDG2P v0.1 | MAT1A |
Rebecca Foulger gene: MAT1A was added gene: MAT1A was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: MAT1A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MAT1A were set to 8770875; 1527987; 10677294; 7560086; 7229751; 3812486; 1683972; 4421454 Phenotypes for gene: MAT1A were set to METHIONINE ADENOSYLTRANSFERASE DEFICIENCY 250850 |
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DDG2P v0.1 | MASP1 |
Rebecca Foulger gene: MASP1 was added gene: MASP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MASP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MASP1 were set to 17937425; 21258343; 21035106 Phenotypes for gene: MASP1 were set to 3MC SYNDROME 1 257920 |
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DDG2P v0.1 | MAPRE2 |
Rebecca Foulger gene: MAPRE2 was added gene: MAPRE2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MAPRE2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MAPRE2 were set to 26637975 Phenotypes for gene: MAPRE2 were set to Circumferential Skin Creases Kunze Type Mode of pathogenicity for gene: MAPRE2 was set to Other - please provide details in the comments |
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DDG2P v0.1 | MAPK10 |
Rebecca Foulger gene: MAPK10 was added gene: MAPK10 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: MAPK10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MAPK10 were set to EPILEPTIC ENCEPHALOPATHY LENNOX-GASTAUT TYPE 606369 |
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DDG2P v0.1 | MAP3K7 |
Rebecca Foulger gene: MAP3K7 was added gene: MAP3K7 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: MAP3K7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MAP3K7 were set to 27426734 Phenotypes for gene: MAP3K7 were set to Cardiospondylocarpofacial syndrome Mode of pathogenicity for gene: MAP3K7 was set to Other - please provide details in the comments |
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DDG2P v0.1 | MAP3K1 |
Rebecca Foulger gene: MAP3K1 was added gene: MAP3K1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MAP3K1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MAP3K1 were set to 5419329; 21129722; 12476449 Phenotypes for gene: MAP3K1 were set to 46XY SEX REVERSAL 6 613762 |
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DDG2P v0.1 | MAP2K2 |
Rebecca Foulger gene: MAP2K2 was added gene: MAP2K2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MAP2K2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MAP2K2 were set to CARDIOFACIOCUTANEOUS SYNDROME 115150 Mode of pathogenicity for gene: MAP2K2 was set to Other - please provide details in the comments |
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DDG2P v0.1 | MAP2K1 |
Rebecca Foulger gene: MAP2K1 was added gene: MAP2K1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MAP2K1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MAP2K1 were set to CARDIOFACIOCUTANEOUS SYNDROME 115150 Mode of pathogenicity for gene: MAP2K1 was set to Other - please provide details in the comments |
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DDG2P v0.1 | MAOA |
Rebecca Foulger gene: MAOA was added gene: MAOA was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: MAOA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: MAOA were set to 24169519 Phenotypes for gene: MAOA were set to BRUNNER SYNDROME 300615 |
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DDG2P v0.1 | MANBA |
Rebecca Foulger gene: MANBA was added gene: MANBA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MANBA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MANBA were set to 16401745; 12890191; 3762648; 1499588; 2079835; 1623631 Phenotypes for gene: MANBA were set to LYSOSOMAL BETA-MANNOSIDOSIS 248510 |
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DDG2P v0.1 | MAN2B1 |
Rebecca Foulger gene: MAN2B1 was added gene: MAN2B1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MAN2B1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MAN2B1 were set to 22161967; 4358183; 9158146; 9758606 Phenotypes for gene: MAN2B1 were set to LYSOSOMAL ALPHA-MANNOSIDOSIS 248500 |
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DDG2P v0.1 | MAN1B1 |
Rebecca Foulger gene: MAN1B1 was added gene: MAN1B1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MAN1B1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MAN1B1 were set to 26577042; 24348268; 21763484; 24566669; 26279649; 21937992 Phenotypes for gene: MAN1B1 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION Mode of pathogenicity for gene: MAN1B1 was set to Other - please provide details in the comments |
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DDG2P v0.1 | MAMLD1 |
Rebecca Foulger gene: MAMLD1 was added gene: MAMLD1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: MAMLD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: MAMLD1 were set to 17086185 Phenotypes for gene: MAMLD1 were set to X-LINKED HYPOSPADIAS TYPE 2 300758 |
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DDG2P v0.1 | MAGT1 |
Rebecca Foulger gene: MAGT1 was added gene: MAGT1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: MAGT1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: MAGT1 were set to 18455129 Phenotypes for gene: MAGT1 were set to MENTAL RETARDATION X-LINKED TYPE 95 300716 |
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DDG2P v0.1 | MAGI2 |
Rebecca Foulger gene: MAGI2 was added gene: MAGI2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: MAGI2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MAGI2 were set to 18565486 Phenotypes for gene: MAGI2 were set to EARLY ONSET EPILEPTIC ENCEPHALOPATHY |
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DDG2P v0.1 | MAGEL2 |
Rebecca Foulger gene: MAGEL2 was added gene: MAGEL2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: MAGEL2 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) Publications for gene: MAGEL2 were set to 27195816; 24076603 Phenotypes for gene: MAGEL2 were set to Schaaf-Yang syndrome |
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DDG2P v0.1 | MAFB |
Rebecca Foulger gene: MAFB was added gene: MAFB was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: MAFB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MAFB were set to 22387013 Phenotypes for gene: MAFB were set to MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME 166300 |
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DDG2P v0.1 | MAF |
Rebecca Foulger Added phenotypes CATARACT PULVERULENT JUVENILE-ONSET MAF-RELATED 610202 for gene: MAF Publications for gene MAF were changed from to 16470690; 11772997 |
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DDG2P v0.1 | MAF |
Rebecca Foulger gene: MAF was added gene: MAF was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MAF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MAF were set to CATARACT, DEAFNESS, INTELLECTUAL DISABILITY, SEIZURES, AND A DOWN SYNDROME-LIKE FACIES Mode of pathogenicity for gene: MAF was set to Other - please provide details in the comments |
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DDG2P v0.1 | MAB21L2 |
Rebecca Foulger gene: MAB21L2 was added gene: MAB21L2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MAB21L2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: MAB21L2 were set to 24906020 Phenotypes for gene: MAB21L2 were set to MICROPHTHALMIA, SYNDROMIC 14 615877 |
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DDG2P v0.1 | LYST |
Rebecca Foulger gene: LYST was added gene: LYST was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: LYST was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LYST were set to 8896560; 9215679; 8751863; 11857544; 10482950; 9215680 Phenotypes for gene: LYST were set to CHEDIAK-HIGASHI SYNDROME 214500 |
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DDG2P v0.1 | LTBP3 |
Rebecca Foulger gene: LTBP3 was added gene: LTBP3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: LTBP3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LTBP3 were set to 25669657 Phenotypes for gene: LTBP3 were set to PLATYSPONDYLY WITH AMELOGENESIS IMPERFECTA 601216 |
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DDG2P v0.1 | LTBP2 |
Rebecca Foulger gene: LTBP2 was added gene: LTBP2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: LTBP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LTBP2 were set to 20617341; 22025892; 20179738 Phenotypes for gene: LTBP2 were set to MICROSPHEROPHAKIA 251750 |
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DDG2P v0.1 | LRRC6 |
Rebecca Foulger gene: LRRC6 was added gene: LRRC6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: LRRC6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LRRC6 were set to 23122589 Phenotypes for gene: LRRC6 were set to PRIMARY CILIARY DISKINESIA 614935 |
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DDG2P v0.1 | LRPPRC |
Rebecca Foulger gene: LRPPRC was added gene: LRPPRC was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: LRPPRC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LRPPRC were set to 12529507 Phenotypes for gene: LRPPRC were set to LEIGH SYNDROME, FRENCH-CANADIAN TYPE 220111 |
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DDG2P v0.1 | LRPAP1 |
Rebecca Foulger gene: LRPAP1 was added gene: LRPAP1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: LRPAP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LRPAP1 were set to 23830514 Phenotypes for gene: LRPAP1 were set to MYOPIA 23, AUTOSOMAL RECESSIVE 615431; EXTREME MYOPIA |
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DDG2P v0.1 | LRP6 |
Rebecca Foulger gene: LRP6 was added gene: LRP6 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: LRP6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: LRP6 were set to 26963285 Phenotypes for gene: LRP6 were set to Tooth Agenesis |
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DDG2P v0.1 | LRP5 |
Rebecca Foulger gene: LRP5 was added gene: LRP5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: LRP5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: LRP5 were set to 11741193; 14727154 Phenotypes for gene: LRP5 were set to HIGH BONE MASS TRAIT 601884 |
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DDG2P v0.1 | LRP4 |
Rebecca Foulger gene: LRP4 was added gene: LRP4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: LRP4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LRP4 were set to 11260233; 14577675; 9182770; 10756427; 18978656; 20381006; 12868467 Phenotypes for gene: LRP4 were set to CENANI-LENZ SYNDACTYLY SYNDROME 212780 |
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DDG2P v0.1 | LRP2 |
Rebecca Foulger gene: LRP2 was added gene: LRP2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: LRP2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: LRP2 were set to 23033978 Phenotypes for gene: LRP2 were set to INTELLECTUAL DISABILITY |
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DDG2P v0.1 | LRIT3 |
Rebecca Foulger gene: LRIT3 was added gene: LRIT3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: LRIT3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LRIT3 were set to 23246293 Phenotypes for gene: LRIT3 were set to AUTOSOMAL-RECESSIVE COMPLETE CONGENITAL STATIONARY NIGHT BLINDNESS 615058 |
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DDG2P v0.1 | LRIG2 |
Rebecca Foulger gene: LRIG2 was added gene: LRIG2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: LRIG2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LRIG2 were set to UROFACIAL SYNDROME 236730 |
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DDG2P v0.1 | LRBA |
Rebecca Foulger gene: LRBA was added gene: LRBA was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: LRBA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LRBA were set to 22608502 Phenotypes for gene: LRBA were set to CHILDHOOD-ONSET HYPOGAMMAGLOBULINEMIA 614700 |
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DDG2P v0.1 | LRAT |
Rebecca Foulger gene: LRAT was added gene: LRAT was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: LRAT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LRAT were set to LEBER CONGENITAL AMAUROSIS 608553 |
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DDG2P v0.1 | LONP1 |
Rebecca Foulger gene: LONP1 was added gene: LONP1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: LONP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LONP1 were set to 25574826 Phenotypes for gene: LONP1 were set to CODAS SYNDROME 600373 Mode of pathogenicity for gene: LONP1 was set to Other - please provide details in the comments |
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DDG2P v0.1 | LMX1B |
Rebecca Foulger gene: LMX1B was added gene: LMX1B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: LMX1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: LMX1B were set to 9618165; 9837817; 10854116; 9590287; 18414507 Phenotypes for gene: LMX1B were set to NAIL-PATELLA SYNDROME 161200 |
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DDG2P v0.1 | LMNA |
Rebecca Foulger gene: LMNA was added gene: LMNA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: LMNA was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: LMNA were set to CARDIOMYOPATHY DILATED TYPE 1A 115200 |
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DDG2P v0.1 | LMBRD1 |
Rebecca Foulger gene: LMBRD1 was added gene: LMBRD1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: LMBRD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LMBRD1 were set to 19136951 Phenotypes for gene: LMBRD1 were set to METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA TYPE CBLF 277380 |
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DDG2P v0.1 | LIPT2 |
Rebecca Foulger gene: LIPT2 was added gene: LIPT2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: LIPT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LIPT2 were set to 28757203 Phenotypes for gene: LIPT2 were set to Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy Mode of pathogenicity for gene: LIPT2 was set to Other - please provide details in the comments |
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DDG2P v0.1 | LIPT1 |
Rebecca Foulger gene: LIPT1 was added gene: LIPT1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: LIPT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LIPT1 were set to 24341803; 27247813; 24256811 Phenotypes for gene: LIPT1 were set to Leigh syndrome with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase. Mode of pathogenicity for gene: LIPT1 was set to Other - please provide details in the comments |
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DDG2P v0.1 | LIPN |
Rebecca Foulger gene: LIPN was added gene: LIPN was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: LIPN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LIPN were set to 21439540 Phenotypes for gene: LIPN were set to ICHTHYOSIS, LAMELLAR, 4 613943 |
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DDG2P v0.1 | LINS1 |
Rebecca Foulger gene: LINS1 was added gene: LINS1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: LINS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LINS1 were set to 21937992 Phenotypes for gene: LINS1 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION |
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DDG2P v0.1 | LIG4 |
Rebecca Foulger gene: LIG4 was added gene: LIG4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: LIG4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LIG4 were set to 11779494 Phenotypes for gene: LIG4 were set to LIG4 SYNDROME 606593 |
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DDG2P v0.1 | LIAS |
Rebecca Foulger gene: LIAS was added gene: LIAS was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: LIAS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LIAS were set to 22152680; 26108146 Phenotypes for gene: LIAS were set to Neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation Mode of pathogenicity for gene: LIAS was set to Other - please provide details in the comments |
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DDG2P v0.1 | LHX4 |
Rebecca Foulger gene: LHX4 was added gene: LHX4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: LHX4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: LHX4 were set to LHX4-RELATED COMBINED PITUITARY HORMONE DEFICIENCY 290135 |
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DDG2P v0.1 | LHX3 |
Rebecca Foulger gene: LHX3 was added gene: LHX3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: LHX3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LHX3 were set to 18407919; 17327381; 10835633 Phenotypes for gene: LHX3 were set to PITUITARY HORMONE DEFICIENCY COMBINED TYPE 3 221750 |
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DDG2P v0.1 | LGI4 |
Rebecca Foulger gene: LGI4 was added gene: LGI4 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: LGI4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LGI4 were set to 28318499 Phenotypes for gene: LGI4 were set to ARTHROGRYPOSIS MULTIPLEX CONGENITA |
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DDG2P v0.1 | LGI1 |
Rebecca Foulger gene: LGI1 was added gene: LGI1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: LGI1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: LGI1 were set to AUTOSOMAL DOMINANT PARTIAL EPILEPSY WITH AUDITORY FEATURES 600512 |
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DDG2P v0.1 | LFNG |
Rebecca Foulger gene: LFNG was added gene: LFNG was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: LFNG was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LFNG were set to 16385447 Phenotypes for gene: LFNG were set to SPONDYLOCOSTAL DYSOSTOSIS TYPE 3 609813 Mode of pathogenicity for gene: LFNG was set to Other - please provide details in the comments |
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DDG2P v0.1 | LEMD3 |
Rebecca Foulger gene: LEMD3 was added gene: LEMD3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: LEMD3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: LEMD3 were set to 17223882; 19438932; 12749062; 9295073; 15489854 Phenotypes for gene: LEMD3 were set to BUSCHKE-OLLENDORFF SYNDROME 166700 |
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DDG2P v0.1 | LEFTY2 |
Rebecca Foulger gene: LEFTY2 was added gene: LEFTY2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: LEFTY2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: LEFTY2 were set to 10053005 Phenotypes for gene: LEFTY2 were set to HETEROTAXY SYNDROME 207574 |
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DDG2P v0.1 | LDB3 |
Rebecca Foulger gene: LDB3 was added gene: LDB3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: LDB3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: LDB3 were set to LEFT VENTRICULAR NON-COMPACTION TYPE 3 601493 Mode of pathogenicity for gene: LDB3 was set to Other - please provide details in the comments |
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DDG2P v0.1 | LBR |
Rebecca Foulger gene: LBR was added gene: LBR was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: LBR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LBR were set to 12618959 Phenotypes for gene: LBR were set to HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA 215140 |
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DDG2P v0.1 | LAS1L |
Rebecca Foulger gene: LAS1L was added gene: LAS1L was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: LAS1L was set to Publications for gene: LAS1L were set to 25644381 Phenotypes for gene: LAS1L were set to INTELLECTUAL DISABILITY |
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DDG2P v0.1 | LARS2 |
Rebecca Foulger gene: LARS2 was added gene: LARS2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: LARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LARS2 were set to 23541342 Phenotypes for gene: LARS2 were set to PERRAULT SYNDROME Mode of pathogenicity for gene: LARS2 was set to Other - please provide details in the comments |
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DDG2P v0.1 | LARP7 |
Rebecca Foulger gene: LARP7 was added gene: LARP7 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: LARP7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LARP7 were set to 26374271; 21937992; 26607181 Phenotypes for gene: LARP7 were set to ALAZAMI SYNDROME 615071 |
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DDG2P v0.1 | LARGE1 |
Rebecca Foulger gene: LARGE1 was added gene: LARGE1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: LARGE1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LARGE1 were set to 19299310; 19067344; 17436019 Phenotypes for gene: LARGE1 were set to MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A6 613154 |
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DDG2P v0.1 | LAMP2 |
Rebecca Foulger gene: LAMP2 was added gene: LAMP2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: LAMP2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: LAMP2 were set to 12112061; 15673802; 3087571; 10972294; 15253947; 8504498; 15907287 Phenotypes for gene: LAMP2 were set to DANON DISEASE 300257 |
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DDG2P v0.1 | LAMC3 |
Rebecca Foulger gene: LAMC3 was added gene: LAMC3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: LAMC3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LAMC3 were set to 21572413 Phenotypes for gene: LAMC3 were set to OCCIPITAL CORTICAL MALFORMATIONS 614115 |
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DDG2P v0.1 | LAMB1 |
Rebecca Foulger gene: LAMB1 was added gene: LAMB1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: LAMB1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LAMB1 were set to COBBLESTONE BRAIN MALFORMATION WITHOUT MUSCULAR OR OCULAR ABNORMALITIES 615191 |
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DDG2P v0.1 | LAMA2 |
Rebecca Foulger gene: LAMA2 was added gene: LAMA2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: LAMA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LAMA2 were set to 9158149; 12601554; 18700894; 16216942; 7550355; 11071490; 12552556; 11591858 Phenotypes for gene: LAMA2 were set to CONGENITAL MUSCULAR DYSTROPHY 607855 |
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DDG2P v0.1 | LAMA1 |
Rebecca Foulger gene: LAMA1 was added gene: LAMA1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: LAMA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LAMA1 were set to 25105227 Phenotypes for gene: LAMA1 were set to CEREBELLAR DYSPLASIA WITH CYSTS WITH OR WITHOUT RETINAL DYSTROPHY |
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DDG2P v0.1 | L2HGDH |
Rebecca Foulger gene: L2HGDH was added gene: L2HGDH was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: L2HGDH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: L2HGDH were set to 19911013; 15385440 Phenotypes for gene: L2HGDH were set to L-2-HYDROXYGLUTARIC ACIDURIA 236792 |
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DDG2P v0.1 | L1CAM |
Rebecca Foulger gene: L1CAM was added gene: L1CAM was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: L1CAM was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: L1CAM were set to 7920659; 7920660; 3460961 Phenotypes for gene: L1CAM were set to MENTAL RETARDATION-APHASIA-SHUFFLING GAIT-ADDUCTED THUMBS SYNDROME 303350 |
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DDG2P v0.1 | KRT74 |
Rebecca Foulger gene: KRT74 was added gene: KRT74 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: KRT74 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KRT74 were set to 21188418 Phenotypes for gene: KRT74 were set to HYPOTRICHOSIS SIMPLEX OF THE SCALP 2 613981 Mode of pathogenicity for gene: KRT74 was set to Other - please provide details in the comments |
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DDG2P v0.1 | KRIT1 |
Rebecca Foulger gene: KRIT1 was added gene: KRIT1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KRIT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KRIT1 were set to CEREBRAL CAVERNOUS MALFORMATIONS TYPE 1 116860 |
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DDG2P v0.1 | KRAS |
Rebecca Foulger gene: KRAS was added gene: KRAS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KRAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KRAS were set to CARDIOFACIOCUTANEOUS SYNDROME 115150 Mode of pathogenicity for gene: KRAS was set to Other - please provide details in the comments |
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DDG2P v0.1 | KPTN |
Rebecca Foulger gene: KPTN was added gene: KPTN was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: KPTN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KPTN were set to 24239382 Phenotypes for gene: KPTN were set to MACROCEPHALY, NEURODEVELOPMENTAL DELAY, AND SEIZURES |
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DDG2P v0.1 | KPNA7 |
Rebecca Foulger gene: KPNA7 was added gene: KPNA7 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: KPNA7 was set to Publications for gene: KPNA7 were set to 24045845 Phenotypes for gene: KPNA7 were set to Gomez-Lopez-Fernandes syndrome |
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DDG2P v0.1 | KMT5B |
Rebecca Foulger gene: KMT5B was added gene: KMT5B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KMT5B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KMT5B were set to 29276005; 28135719 Phenotypes for gene: KMT5B were set to KMT5B syndrome |
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DDG2P v0.1 | KMT2E |
Rebecca Foulger gene: KMT2E was added gene: KMT2E was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KMT2E was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KMT2E were set to INTELLECTUAL DISABILITY |
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DDG2P v0.1 | KMT2D |
Rebecca Foulger gene: KMT2D was added gene: KMT2D was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KMT2D was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KMT2D were set to KABUKI SYNDROME 147920 |
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DDG2P v0.1 | KMT2C |
Rebecca Foulger gene: KMT2C was added gene: KMT2C was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: KMT2C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KMT2C were set to 29276005; 29069077 Phenotypes for gene: KMT2C were set to INTELLECTUAL DISABILITY |
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DDG2P v0.1 | KMT2B |
Rebecca Foulger gene: KMT2B was added gene: KMT2B was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: KMT2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KMT2B were set to 27992417; 27839873 Phenotypes for gene: KMT2B were set to Complex early-onset dystonia |
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DDG2P v0.1 | KMT2A |
Rebecca Foulger gene: KMT2A was added gene: KMT2A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KMT2A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KMT2A were set to WIEDEMANN-STEINER SYNDROME 605130 |
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DDG2P v0.1 | KLHL7 |
Rebecca Foulger gene: KLHL7 was added gene: KLHL7 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: KLHL7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KLHL7 were set to 27392078 Phenotypes for gene: KLHL7 were set to Cold-induced sweating syndrome type 1 (CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa Mode of pathogenicity for gene: KLHL7 was set to Other - please provide details in the comments |
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DDG2P v0.1 | KLHL40 |
Rebecca Foulger gene: KLHL40 was added gene: KLHL40 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KLHL40 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KLHL40 were set to 23746549 Phenotypes for gene: KLHL40 were set to NEMALINE MYOPATHY 8, AUTOSOMAL RECESSIVE 615348 |
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DDG2P v0.1 | KLHL15 |
Rebecca Foulger gene: KLHL15 was added gene: KLHL15 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: KLHL15 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: KLHL15 were set to 25644381 Phenotypes for gene: KLHL15 were set to INTELLECTUAL DISABILITY |
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DDG2P v0.1 | KLF8 |
Rebecca Foulger gene: KLF8 was added gene: KLF8 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: KLF8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KLF8 were set to 22495311 Phenotypes for gene: KLF8 were set to NONSYNDROMIC MENTAL RETARDATION |
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DDG2P v0.1 | KLF1 |
Rebecca Foulger gene: KLF1 was added gene: KLF1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KLF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KLF1 were set to 21055716 Phenotypes for gene: KLF1 were set to ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE IV 613673 Mode of pathogenicity for gene: KLF1 was set to Other - please provide details in the comments |
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DDG2P v0.1 | KITLG |
Rebecca Foulger gene: KITLG was added gene: KITLG was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: KITLG was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KITLG were set to 26522471 Phenotypes for gene: KITLG were set to WAARDENBURG SYNDROME TYPE 2 Mode of pathogenicity for gene: KITLG was set to Other - please provide details in the comments |
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DDG2P v0.1 | KIT |
Rebecca Foulger gene: KIT was added gene: KIT was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KIT was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KIT were set to HUMAN PIEBALDISM 172800 |
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DDG2P v0.1 | KIRREL3 |
Rebecca Foulger gene: KIRREL3 was added gene: KIRREL3 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: KIRREL3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KIRREL3 were set to 19012874 Phenotypes for gene: KIRREL3 were set to MENTAL RETARDATION AUTOSOMAL DOMINANT TYPE 4 612581 Mode of pathogenicity for gene: KIRREL3 was set to Other - please provide details in the comments |
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DDG2P v0.1 | KIF7 |
Rebecca Foulger gene: KIF7 was added gene: KIF7 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KIF7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KIF7 were set to ACROCALLOSAL SYNDROME 200990 |
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DDG2P v0.1 | KIF5C |
Rebecca Foulger gene: KIF5C was added gene: KIF5C was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: KIF5C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KIF5C were set to 23603762 Phenotypes for gene: KIF5C were set to CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2 615282 Mode of pathogenicity for gene: KIF5C was set to Other - please provide details in the comments |
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DDG2P v0.1 | KIF4A |
Rebecca Foulger gene: KIF4A was added gene: KIF4A was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: KIF4A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: KIF4A were set to 24812067 Phenotypes for gene: KIF4A were set to INTELLECTUAL DISABILITY |
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DDG2P v0.1 | KIF2A |
Rebecca Foulger gene: KIF2A was added gene: KIF2A was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: KIF2A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KIF2A were set to 23603762 Phenotypes for gene: KIF2A were set to MALFORMATIONS OF CORTICAL DEVELOPMENT AND MICROCEPHALY. Mode of pathogenicity for gene: KIF2A was set to Other - please provide details in the comments |
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DDG2P v0.1 | KIF22 |
Rebecca Foulger gene: KIF22 was added gene: KIF22 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KIF22 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KIF22 were set to 19277648; 22152678 Phenotypes for gene: KIF22 were set to SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2 603546 Mode of pathogenicity for gene: KIF22 was set to Other - please provide details in the comments |
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DDG2P v0.1 | KIF1BP |
Rebecca Foulger gene: KIF1BP was added gene: KIF1BP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KIF1BP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIF1BP were set to 15883926 Phenotypes for gene: KIF1BP were set to GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME 609460 |
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DDG2P v0.1 | KIF1A |
Rebecca Foulger gene: KIF1A was added gene: KIF1A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KIF1A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: KIF1A were set to 21376300 Phenotypes for gene: KIF1A were set to MENTAL RETARDATION, AUTOSOMAL DOMINANT 9 614255 |
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DDG2P v0.1 | KIF11 |
Rebecca Foulger gene: KIF11 was added gene: KIF11 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KIF11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KIF11 were set to 15930898; 22284827 Phenotypes for gene: KIF11 were set to AUTOSOMAL-DOMINANT MICROCEPHALY ASSOCIATED WITH LYMPHEDEMA AND/OR CHORIORETINOPATHY 152950 |
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DDG2P v0.1 | KIDINS220 |
Rebecca Foulger gene: KIDINS220 was added gene: KIDINS220 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: KIDINS220 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KIDINS220 were set to 27005418 Phenotypes for gene: KIDINS220 were set to Spastic paraplegia, intellectual disability, nystagmus, and obesity. |
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DDG2P v0.1 | KIAA1109 |
Rebecca Foulger gene: KIAA1109 was added gene: KIAA1109 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: KIAA1109 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIAA1109 were set to 25558065 Phenotypes for gene: KIAA1109 were set to Brain atrophy, Dandy Walker and Contractures Mode of pathogenicity for gene: KIAA1109 was set to Other - please provide details in the comments |
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DDG2P v0.1 | KIAA0586 |
Rebecca Foulger gene: KIAA0586 was added gene: KIAA0586 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KIAA0586 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIAA0586 were set to 26026149; 26437029 Phenotypes for gene: KIAA0586 were set to JOUBERT SYNDROME 614615 |
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DDG2P v0.1 | KDM6B |
Rebecca Foulger gene: KDM6B was added gene: KDM6B was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: KDM6B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KDM6B were set to 21937992 Phenotypes for gene: KDM6B were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION Mode of pathogenicity for gene: KDM6B was set to Other - please provide details in the comments |
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DDG2P v0.1 | KDM6A |
Rebecca Foulger gene: KDM6A was added gene: KDM6A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KDM6A was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: KDM6A were set to 23076834; 22197486 Phenotypes for gene: KDM6A were set to KABUKI SYNDROME 2 300867 |
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DDG2P v0.1 | KDM5C |
Rebecca Foulger gene: KDM5C was added gene: KDM5C was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KDM5C was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: KDM5C were set to 18203167; 19826449; 18697827; 21575681; 15586325; 16538222; 10982473 Phenotypes for gene: KDM5C were set to MENTAL RETARDATION SYNDROMIC X-LINKED JARID1C-RELATED 300534 |
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DDG2P v0.1 | KDM5B |
Rebecca Foulger gene: KDM5B was added gene: KDM5B was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: KDM5B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KDM5B were set to 24307393; 28720891 Phenotypes for gene: KDM5B were set to Autism |
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DDG2P v0.1 | KDM5A |
Rebecca Foulger gene: KDM5A was added gene: KDM5A was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: KDM5A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KDM5A were set to 21937992 Phenotypes for gene: KDM5A were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION Mode of pathogenicity for gene: KDM5A was set to Other - please provide details in the comments |
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DDG2P v0.1 | KDM1A |
Rebecca Foulger gene: KDM1A was added gene: KDM1A was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: KDM1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KDM1A were set to 26656649 Phenotypes for gene: KDM1A were set to Developmental delay and distinctive facial features Mode of pathogenicity for gene: KDM1A was set to Other - please provide details in the comments |
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DDG2P v0.1 | KCTD7 |
Rebecca Foulger gene: KCTD7 was added gene: KCTD7 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KCTD7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KCTD7 were set to NEURONAL CEROID LIPOFUSCINOSIS |
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DDG2P v0.1 | KCTD1 |
Rebecca Foulger gene: KCTD1 was added gene: KCTD1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KCTD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KCTD1 were set to 23541344 Phenotypes for gene: KCTD1 were set to SCALP-EAR-NIPPLE SYNDROME Mode of pathogenicity for gene: KCTD1 was set to Other - please provide details in the comments |
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DDG2P v0.1 | KCNT1 |
Rebecca Foulger gene: KCNT1 was added gene: KCNT1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KCNT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KCNT1 were set to 23086397 Phenotypes for gene: KCNT1 were set to MALIGNANT MIGRATING PARTIAL SEIZURES OF INFANCY Mode of pathogenicity for gene: KCNT1 was set to Other - please provide details in the comments |
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DDG2P v0.1 | KCNQ5 |
Rebecca Foulger gene: KCNQ5 was added gene: KCNQ5 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: KCNQ5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KCNQ5 were set to 28669405 Phenotypes for gene: KCNQ5 were set to Intellectual Disability with or without Epileptic Encephalopathy |
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DDG2P v0.1 | KCNQ3 |
Rebecca Foulger gene: KCNQ3 was added gene: KCNQ3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KCNQ3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KCNQ3 were set to KCNQ3 syndrome Mode of pathogenicity for gene: KCNQ3 was set to Other - please provide details in the comments |
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DDG2P v0.1 | KCNQ2 |
Rebecca Foulger gene: KCNQ2 was added gene: KCNQ2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KCNQ2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KCNQ2 were set to 11572947; 9425895; 15249611; 16235065; 11175290; 9430594; 17872363; 10323247 Phenotypes for gene: KCNQ2 were set to BENIGN NEONATAL EPILEPSY TYPE 1 121200 |
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DDG2P v0.1 | KCNQ1 |
Rebecca Foulger gene: KCNQ1 was added gene: KCNQ1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KCNQ1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KCNQ1 were set to JERVELL AND LANGE-NIELSEN SYNDROME TYPE 1 220400 |
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DDG2P v0.1 | KCNMA1 |
Rebecca Foulger gene: KCNMA1 was added gene: KCNMA1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: KCNMA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KCNMA1 were set to 15937479 Phenotypes for gene: KCNMA1 were set to GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA 609446 Mode of pathogenicity for gene: KCNMA1 was set to Other - please provide details in the comments |
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DDG2P v0.1 | KCNK9 |
Rebecca Foulger gene: KCNK9 was added gene: KCNK9 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: KCNK9 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Phenotypes for gene: KCNK9 were set to BIRK-BAREL SYNDROME 612292 Mode of pathogenicity for gene: KCNK9 was set to Other - please provide details in the comments |
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DDG2P v0.1 | KCNJ6 |
Rebecca Foulger gene: KCNJ6 was added gene: KCNJ6 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: KCNJ6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KCNJ6 were set to 25620207 Phenotypes for gene: KCNJ6 were set to KEPPEN-LUBINSKY SYNDROME 614098 Mode of pathogenicity for gene: KCNJ6 was set to Other - please provide details in the comments |
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DDG2P v0.1 | KCNJ11 |
Rebecca Foulger gene: KCNJ11 was added gene: KCNJ11 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KCNJ11 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: KCNJ11 were set to 9356020 Phenotypes for gene: KCNJ11 were set to FAMILIAL HYPERINSULINISM 3272 |
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DDG2P v0.1 | KCNJ10 |
Rebecca Foulger gene: KCNJ10 was added gene: KCNJ10 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KCNJ10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KCNJ10 were set to 20651251; 19289823; 19420365; 21849804 Phenotypes for gene: KCNJ10 were set to SEIZURES-SENSORINEURAL DEAFNESS-ATAXIA-MENTAL RETARDATION-ELECTROLYTE IMBALANCE 612780 |
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DDG2P v0.1 | KCNH5 |
Rebecca Foulger gene: KCNH5 was added gene: KCNH5 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: KCNH5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KCNH5 were set to 23647072 Phenotypes for gene: KCNH5 were set to INFANTILE EPILEPTIC ENCEPHALOPATHY Mode of pathogenicity for gene: KCNH5 was set to Other - please provide details in the comments |
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DDG2P v0.1 | KCNH1 |
Rebecca Foulger gene: KCNH1 was added gene: KCNH1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: KCNH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KCNH1 were set to 25420144 Phenotypes for gene: KCNH1 were set to TEMPLE BARRAISTER SYNDROME 611816 Mode of pathogenicity for gene: KCNH1 was set to Other - please provide details in the comments |
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DDG2P v0.1 | KCNE1 |
Rebecca Foulger gene: KCNE1 was added gene: KCNE1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: KCNE1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: KCNE1 were set to JERVELL AND LANGE-NIELSEN SYNDROME TYPE 2 612347 Mode of pathogenicity for gene: KCNE1 was set to Other - please provide details in the comments |
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DDG2P v0.1 | KCNC3 |
Rebecca Foulger gene: KCNC3 was added gene: KCNC3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: KCNC3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KCNC3 were set to SPINOCEREBELLAR ATAXIA TYPE 13 605259 Mode of pathogenicity for gene: KCNC3 was set to Other - please provide details in the comments |
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DDG2P v0.1 | KCNC1 |
Rebecca Foulger gene: KCNC1 was added gene: KCNC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KCNC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KCNC1 were set to 25401298 Phenotypes for gene: KCNC1 were set to EPILEPSY, PROGRESSIVE MYOCLONIC 7 616187 Mode of pathogenicity for gene: KCNC1 was set to Other - please provide details in the comments |
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DDG2P v0.1 | KCNB1 |
Rebecca Foulger gene: KCNB1 was added gene: KCNB1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KCNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KCNB1 were set to 25164438 Phenotypes for gene: KCNB1 were set to EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26 616056 Mode of pathogenicity for gene: KCNB1 was set to Other - please provide details in the comments |
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DDG2P v0.1 | KCNA2 |
Rebecca Foulger gene: KCNA2 was added gene: KCNA2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KCNA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KCNA2 were set to 25751627 Phenotypes for gene: KCNA2 were set to EPILEPTIC ENCEPHALOPATHY. |
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DDG2P v0.1 | KBTBD13 |
Rebecca Foulger gene: KBTBD13 was added gene: KBTBD13 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KBTBD13 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KBTBD13 were set to 21104864; 21109227; 12805120 Phenotypes for gene: KBTBD13 were set to NEMALINE MYOPATHY 6 609273 Mode of pathogenicity for gene: KBTBD13 was set to Other - please provide details in the comments |
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DDG2P v0.1 | KAT6B |
Rebecca Foulger gene: KAT6B was added gene: KAT6B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KAT6B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KAT6B were set to BLEPHAROPHIMOSIS/INTELLECTUAL DISABILITY PHENOTYPE WHICH IS NOONAN-LIKE |
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DDG2P v0.1 | KAT6A |
Rebecca Foulger gene: KAT6A was added gene: KAT6A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KAT6A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KAT6A were set to 25728775; 30245513 Phenotypes for gene: KAT6A were set to MENTAL RETARDATION, AUTOSOMAL DOMINANT 32 616268 |
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DDG2P v0.1 | KARS |
Rebecca Foulger gene: KARS was added gene: KARS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KARS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KARS were set to 20920668 Phenotypes for gene: KARS were set to CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B 613641 |
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DDG2P v0.1 | KANSL1 |
Rebecca Foulger gene: KANSL1 was added gene: KANSL1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KANSL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KANSL1 were set to 22544367; 22544363 Phenotypes for gene: KANSL1 were set to CHROMOSOME 17Q21.31 MICRODELETION SYNDROME 610443 |
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DDG2P v0.1 | KANK1 |
Rebecca Foulger gene: KANK1 was added gene: KANK1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: KANK1 was set to Publications for gene: KANK1 were set to 16301218 Phenotypes for gene: KANK1 were set to CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 2 612900 |
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DDG2P v0.1 | JAM3 |
Rebecca Foulger gene: JAM3 was added gene: JAM3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: JAM3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: JAM3 were set to 21109224; 23255084 Phenotypes for gene: JAM3 were set to HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS 613730 |
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DDG2P v0.1 | JAK3 |
Rebecca Foulger gene: JAK3 was added gene: JAK3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: JAK3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: JAK3 were set to 10982185; 7659163; 11741532; 7481768 Phenotypes for gene: JAK3 were set to SEVERE COMBINED IMMUNE DEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL -POSITIVE, NK CELL-NEGATIVE, JAK3-RELATED 600802 |
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DDG2P v0.1 | JAGN1 |
Rebecca Foulger gene: JAGN1 was added gene: JAGN1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: JAGN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: JAGN1 were set to 25129144 Phenotypes for gene: JAGN1 were set to SEVERE CONGENITAL NEUTROPENIA |
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DDG2P v0.1 | JAG1 |
Rebecca Foulger gene: JAG1 was added gene: JAG1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: JAG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: JAG1 were set to ALAGILLE SYNDROME 279357 |
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DDG2P v0.1 | IVD |
Rebecca Foulger gene: IVD was added gene: IVD was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: IVD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IVD were set to 2063866; 15486829; 10677295; 1310317 Phenotypes for gene: IVD were set to ISOVALERIC ACIDEMIA 243500 |
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DDG2P v0.1 | ITPR1 |
Rebecca Foulger gene: ITPR1 was added gene: ITPR1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: ITPR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: ITPR1 were set to 17932120 Phenotypes for gene: ITPR1 were set to SPINOCEREBELLAR ATAXIA TYPE15 606658 |
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DDG2P v0.1 | ITGA8 |
Rebecca Foulger gene: ITGA8 was added gene: ITGA8 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: ITGA8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ITGA8 were set to RENAL HYPODYSPLASIA/APLASIA 1 191830 |
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DDG2P v0.1 | ITGA7 |
Rebecca Foulger gene: ITGA7 was added gene: ITGA7 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ITGA7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ITGA7 were set to 9590299 Phenotypes for gene: ITGA7 were set to CONGENITAL MUSCULAR DYSTROPHY 607855 |
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DDG2P v0.1 | ITGA6 |
Rebecca Foulger gene: ITGA6 was added gene: ITGA6 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: ITGA6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ITGA6 were set to 9185503 Phenotypes for gene: ITGA6 were set to EPIDERMOLYSIS BULLOSA WITH PYLORIC ATRESIA 226730 |
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DDG2P v0.1 | ITGA3 |
Rebecca Foulger gene: ITGA3 was added gene: ITGA3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ITGA3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ITGA3 were set to 22512483 Phenotypes for gene: ITGA3 were set to INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL 614748 |
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DDG2P v0.1 | ITCH |
Rebecca Foulger gene: ITCH was added gene: ITCH was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: ITCH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ITCH were set to 20170897 Phenotypes for gene: ITCH were set to AUTOIMMUNE DISEASE, SYNDROMIC MULTISYSTEM 613385 |
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DDG2P v0.1 | ISPD |
Rebecca Foulger gene: ISPD was added gene: ISPD was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ISPD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ISPD were set to 23217329; 22522420; 22522421; 7604843; 9492098 Phenotypes for gene: ISPD were set to WALKER WARBURG SYNDROME 614643 |
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DDG2P v0.1 | IRX5 |
Rebecca Foulger gene: IRX5 was added gene: IRX5 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: IRX5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IRX5 were set to HYPERTELORISM, SEVERE, WITH MIDFACE PROMINENCE, MYOPIA, MENTAL RETARDATION, AND BONE FRAGILITY 611174 Mode of pathogenicity for gene: IRX5 was set to Other - please provide details in the comments |
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DDG2P v0.1 | IRF6 |
Rebecca Foulger gene: IRF6 was added gene: IRF6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: IRF6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: IRF6 were set to 12219090; 18478600; 14618417; 14757865; 12920575; 19842205 Phenotypes for gene: IRF6 were set to VAN DER WOUDE SYNDROME 119300 |
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DDG2P v0.1 | IQSEC2 |
Rebecca Foulger gene: IQSEC2 was added gene: IQSEC2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: IQSEC2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: IQSEC2 were set to 3177466; 7943039; 20473311 Phenotypes for gene: IQSEC2 were set to MENTAL RETARDATION X-LINKED TYPE 1 309530 Mode of pathogenicity for gene: IQSEC2 was set to Other - please provide details in the comments |
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DDG2P v0.1 | INPPL1 |
Rebecca Foulger gene: INPPL1 was added gene: INPPL1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: INPPL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: INPPL1 were set to 23273569 Phenotypes for gene: INPPL1 were set to OPSISMODYSPLASIA 258480 |
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DDG2P v0.1 | INPP5K |
Rebecca Foulger gene: INPP5K was added gene: INPP5K was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: INPP5K was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: INPP5K were set to 28190459; 28190456 Phenotypes for gene: INPP5K were set to Muscular dystrophy, congenital, with cataracts and intellectual disability Mode of pathogenicity for gene: INPP5K was set to Other - please provide details in the comments |
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DDG2P v0.1 | INPP5E |
Rebecca Foulger gene: INPP5E was added gene: INPP5E was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: INPP5E was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: INPP5E were set to 19668215 Phenotypes for gene: INPP5E were set to MENTAL RETARDATION-TRUNCAL OBESITY-RETINAL DYSTROPHY-MICROPENIS 610156 |
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DDG2P v0.1 | INPP4A |
Rebecca Foulger gene: INPP4A was added gene: INPP4A was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: INPP4A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: INPP4A were set to 21937992 Phenotypes for gene: INPP4A were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION |
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DDG2P v0.1 | IMPAD1 |
Rebecca Foulger gene: IMPAD1 was added gene: IMPAD1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: IMPAD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IMPAD1 were set to 21549340 Phenotypes for gene: IMPAD1 were set to CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GRAPP TYPE 614078 |
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DDG2P v0.1 | IL1RAPL1 |
Rebecca Foulger gene: IL1RAPL1 was added gene: IL1RAPL1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: IL1RAPL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: IL1RAPL1 were set to 16470793; 18801879; 10471494; 19012350 Phenotypes for gene: IL1RAPL1 were set to MENTAL RETARDATION X-LINKED TYPE 21 300143 |
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DDG2P v0.1 | IL11RA |
Rebecca Foulger gene: IL11RA was added gene: IL11RA was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: IL11RA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IL11RA were set to 24498618 Phenotypes for gene: IL11RA were set to Crouzon-like craniosynostosis |
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DDG2P v0.1 | IL11 |
Rebecca Foulger gene: IL11 was added gene: IL11 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: IL11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IL11 were set to 21741611 Phenotypes for gene: IL11 were set to CRANIOSYNOSTOSIS AND DENTAL ANOMALIES 614188 Mode of pathogenicity for gene: IL11 was set to Other - please provide details in the comments |
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DDG2P v0.1 | IKBKG |
Rebecca Foulger gene: IKBKG was added gene: IKBKG was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: IKBKG was set to X linked: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: IKBKG were set to 15356572; 15577852 Phenotypes for gene: IKBKG were set to IMMUNODEFICIENCY NEMO-RELATED WITHOUT ANHIDROTIC ECTODERMAL DYSPLASIA 300584 |
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DDG2P v0.1 | IHH |
Rebecca Foulger gene: IHH was added gene: IHH was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: IHH was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: IHH were set to 16871364; 19277064; 18629882; 12384778; 11455389; 12525541 Phenotypes for gene: IHH were set to BRACHYDACTYLY, TYPE A1 112500 Mode of pathogenicity for gene: IHH was set to Other - please provide details in the comments |
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DDG2P v0.1 | IGSF1 |
Rebecca Foulger gene: IGSF1 was added gene: IGSF1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: IGSF1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: IGSF1 were set to 23143598 Phenotypes for gene: IGSF1 were set to CENTRAL HYPOTHYROIDISM AND TESTICULAR ENLARGEMENT 300888 |
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DDG2P v0.1 | IGHMBP2 |
Rebecca Foulger gene: IGHMBP2 was added gene: IGHMBP2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: IGHMBP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IGHMBP2 were set to 11528396; 15290238 Phenotypes for gene: IGHMBP2 were set to SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1 604320 |
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DDG2P v0.1 | IGFBP7 |
Rebecca Foulger gene: IGFBP7 was added gene: IGFBP7 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: IGFBP7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IGFBP7 were set to 12441727 Phenotypes for gene: IGFBP7 were set to RETINAL ARTERIAL MACROANEURYSM WITH SUPRAVALVULAR PULMONIC STENOSIS 614224 |
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DDG2P v0.1 | IGF2 |
Rebecca Foulger gene: IGF2 was added gene: IGF2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: IGF2 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) Publications for gene: IGF2 were set to 26154720 Phenotypes for gene: IGF2 were set to CHROMOSOME 11P15.5-RELATED RUSSELL-SILVER SYNDROME 180860 |
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DDG2P v0.1 | IGF1R |
Rebecca Foulger gene: IGF1R was added gene: IGF1R was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: IGF1R was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: IGF1R were set to 14657428 Phenotypes for gene: IGF1R were set to INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO 270450 |
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DDG2P v0.1 | IGF1 |
Rebecca Foulger gene: IGF1 was added gene: IGF1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: IGF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IGF1 were set to 15769976; 8857020; 14684690 Phenotypes for gene: IGF1 were set to INSULIN-LIKE GROWTH FACTOR I DEFICIENCY 608747 |
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DDG2P v0.1 | IGBP1 |
Rebecca Foulger gene: IGBP1 was added gene: IGBP1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: IGBP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: IGBP1 were set to AGENESIS OF THE CORPUS CALLOSUM WITH MENTAL RETARDATION-OCULAR COLOBOMA-MICROGNATHIA 300472 Mode of pathogenicity for gene: IGBP1 was set to Other - please provide details in the comments |
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DDG2P v0.1 | IFT80 |
Rebecca Foulger gene: IFT80 was added gene: IFT80 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: IFT80 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IFT80 were set to 17468754 Phenotypes for gene: IFT80 were set to ASPHYXIATING THORACIC DYSTROPHY 2 611263 Mode of pathogenicity for gene: IFT80 was set to Other - please provide details in the comments |
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DDG2P v0.1 | IFT43 |
Rebecca Foulger gene: IFT43 was added gene: IFT43 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: IFT43 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IFT43 were set to 21378380 Phenotypes for gene: IFT43 were set to CRANIOECTODERMAL DYSPLASIA TYPE 3 614099 Mode of pathogenicity for gene: IFT43 was set to Other - please provide details in the comments |
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DDG2P v0.1 | IFT172 |
Rebecca Foulger gene: IFT172 was added gene: IFT172 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: IFT172 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IFT172 were set to 24140113 Phenotypes for gene: IFT172 were set to MAINZER-SALDINO SYNDROME 266920 |
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DDG2P v0.1 | IFT140 |
Rebecca Foulger gene: IFT140 was added gene: IFT140 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: IFT140 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IFT140 were set to 22503633 Phenotypes for gene: IFT140 were set to MAINZER-SALDINO SYNDROME 266920 |
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DDG2P v0.1 | IFT122 |
Rebecca Foulger gene: IFT122 was added gene: IFT122 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: IFT122 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IFT122 were set to 19760620; 17022080; 20493458 Phenotypes for gene: IFT122 were set to CRANIOECTODERMAL DYSPLASIA 218330 Mode of pathogenicity for gene: IFT122 was set to Other - please provide details in the comments |
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DDG2P v0.1 | IFITM5 |
Rebecca Foulger gene: IFITM5 was added gene: IFITM5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: IFITM5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: IFITM5 were set to 22863195; 22863190 Phenotypes for gene: IFITM5 were set to OSTEOGENESIS IMPERFECTA TYPE V 610967 Mode of pathogenicity for gene: IFITM5 was set to Other - please provide details in the comments |
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DDG2P v0.1 | IFIH1 |
Rebecca Foulger gene: IFIH1 was added gene: IFIH1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: IFIH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: IFIH1 were set to 24995871 Phenotypes for gene: IFIH1 were set to AICARDI-GOUTIERES SYNDROME 7 615846 Mode of pathogenicity for gene: IFIH1 was set to Other - please provide details in the comments |
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DDG2P v0.1 | IDUA |
Rebecca Foulger gene: IDUA was added gene: IDUA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: IDUA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IDUA were set to 7550232; 4221470 Phenotypes for gene: IDUA were set to MUCOPOLYSACCHARIDOSIS TYPE 1S 607016 |
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DDG2P v0.1 | IDS |
Rebecca Foulger gene: IDS was added gene: IDS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: IDS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: IDS were set to 1639384; 1303211; 7581397; 1355630; 1550586; 12794697; 1284597; 8940265; 8364592 Phenotypes for gene: IDS were set to MUCOPOLYSACCHARIDOSIS TYPE 2 309900 |
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DDG2P v0.1 | IARS2 |
Rebecca Foulger gene: IARS2 was added gene: IARS2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: IARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IARS2 were set to 25130867 Phenotypes for gene: IARS2 were set to CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA 616007 |
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DDG2P v0.1 | IARS |
Rebecca Foulger gene: IARS was added gene: IARS was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: IARS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IARS were set to 27426735 Phenotypes for gene: IARS were set to Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy |
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DDG2P v0.1 | HYLS1 |
Rebecca Foulger gene: HYLS1 was added gene: HYLS1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HYLS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HYLS1 were set to 15843405 Phenotypes for gene: HYLS1 were set to HYDROLETHALUS SYNDROME TYPE 1 236680 Mode of pathogenicity for gene: HYLS1 was set to Other - please provide details in the comments |
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DDG2P v0.1 | HYDIN |
Rebecca Foulger gene: HYDIN was added gene: HYDIN was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HYDIN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HYDIN were set to 14985390; 23022101 Phenotypes for gene: HYDIN were set to CILIARY DYSKINESIA, PRIMARY, 5 608647 |
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DDG2P v0.1 | HYAL1 |
Rebecca Foulger gene: HYAL1 was added gene: HYAL1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HYAL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HYAL1 were set to 8793927 Phenotypes for gene: HYAL1 were set to MUCOPOLYSACCHARIDOSIS TYPE 9 601492 |
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DDG2P v0.1 | HUWE1 |
Rebecca Foulger gene: HUWE1 was added gene: HUWE1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HUWE1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: HUWE1 were set to 7943042; 18252223 Phenotypes for gene: HUWE1 were set to MENTAL RETARDATION SYNDROMIC X-LINKED TURNER TYPE 300706 Mode of pathogenicity for gene: HUWE1 was set to Other - please provide details in the comments |
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DDG2P v0.1 | HTRA2 |
Rebecca Foulger gene: HTRA2 was added gene: HTRA2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: HTRA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HTRA2 were set to 27696117 Phenotypes for gene: HTRA2 were set to Early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria |
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DDG2P v0.1 | HSPG2 |
Rebecca Foulger gene: HSPG2 was added gene: HSPG2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HSPG2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HSPG2 were set to 11101850; 11941538 Phenotypes for gene: HSPG2 were set to SCHWARTZ-JAMPEL SYNDROME 255800 |
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DDG2P v0.1 | HSPD1 |
Rebecca Foulger gene: HSPD1 was added gene: HSPD1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HSPD1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HSPD1 were set to LEUKODYSTROPHY HYPOMYELINATING TYPE 4 612233 |
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DDG2P v0.1 | HSF4 |
Rebecca Foulger gene: HSF4 was added gene: HSF4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HSF4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: HSF4 were set to 12089525 Phenotypes for gene: HSF4 were set to CATARACT MARNER TYPE 116800 Mode of pathogenicity for gene: HSF4 was set to Other - please provide details in the comments |
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DDG2P v0.1 | HSD3B7 |
Rebecca Foulger gene: HSD3B7 was added gene: HSD3B7 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HSD3B7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HSD3B7 were set to BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1 607765 |
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DDG2P v0.1 | HSD17B4 |
Rebecca Foulger gene: HSD17B4 was added gene: HSD17B4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HSD17B4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HSD17B4 were set to 4061497 Phenotypes for gene: HSD17B4 were set to PERRAULT SYNDROME |
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DDG2P v0.1 | HSD17B10 |
Rebecca Foulger gene: HSD17B10 was added gene: HSD17B10 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HSD17B10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: HSD17B10 were set to 16148061; 12555940; 12696021 Phenotypes for gene: HSD17B10 were set to 2-METHYL-3-HYDROXYBUTYRYL-COA DEHYDROGENASE DEFICIENCY 300438 |
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DDG2P v0.1 | HRAS |
Rebecca Foulger gene: HRAS was added gene: HRAS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HRAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: HRAS were set to 17468812; 18247425; 16835863; 17412879; 16443854; 17056636; 18039947; 17054105; 19995790; 16170316 Phenotypes for gene: HRAS were set to COSTELLO SYNDROME 218040 Mode of pathogenicity for gene: HRAS was set to Other - please provide details in the comments |
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DDG2P v0.1 | HR |
Rebecca Foulger gene: HR was added gene: HR was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HR were set to 19897589; 10777357; 17680008 Phenotypes for gene: HR were set to ALOPECIA UNIVERSALIS 146550 |
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DDG2P v0.1 | HPSE2 |
Rebecca Foulger gene: HPSE2 was added gene: HPSE2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HPSE2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HPSE2 were set to 11446407; 19669792; 20560210; 19839856 Phenotypes for gene: HPSE2 were set to UROFACIAL SYNDROME 236730 |
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DDG2P v0.1 | HPS1 |
Rebecca Foulger gene: HPS1 was added gene: HPS1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HPS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HPS1 were set to 9705234; 8896559; 10971344; 8274781; 9497254 Phenotypes for gene: HPS1 were set to HERMANSKY-PUDLAK SYNDROME 203300 |
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DDG2P v0.1 | HPRT1 |
Rebecca Foulger gene: HPRT1 was added gene: HPRT1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HPRT1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: HPRT1 were set to GOUT HPRT-RELATED 300323 |
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DDG2P v0.1 | HPGD |
Rebecca Foulger gene: HPGD was added gene: HPGD was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HPGD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HPGD were set to CRANIOOSTEOARTHROPATHY 259100 |
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DDG2P v0.1 | HPD |
Rebecca Foulger gene: HPD was added gene: HPD was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: HPD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: HPD were set to HAWKINSINURIA 140350 |
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DDG2P v0.1 | HOXD13 |
Rebecca Foulger gene: HOXD13 was added gene: HOXD13 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HOXD13 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: HOXD13 were set to 19006232 Phenotypes for gene: HOXD13 were set to VACTERL ASSOCIATION 192350 Mode of pathogenicity for gene: HOXD13 was set to Other - please provide details in the comments |
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DDG2P v0.1 | HOXC13 |
Rebecca Foulger gene: HOXC13 was added gene: HOXC13 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HOXC13 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HOXC13 were set to 23315978; 23063621 Phenotypes for gene: HOXC13 were set to PURE HAIR AND NAIL ECTODERMAL DYSPLASIA 614931 |
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DDG2P v0.1 | HOXB1 |
Rebecca Foulger gene: HOXB1 was added gene: HOXB1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: HOXB1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HOXB1 were set to 22770981 Phenotypes for gene: HOXB1 were set to FACIAL PARESIS, HEREDITARY CONGENITAL, 3 614744 Mode of pathogenicity for gene: HOXB1 was set to Other - please provide details in the comments |
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DDG2P v0.1 | HOXA13 |
Rebecca Foulger gene: HOXA13 was added gene: HOXA13 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HOXA13 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: HOXA13 were set to 10839976 Phenotypes for gene: HOXA13 were set to HAND-FOOT-GENITAL SYNDROME 140000 |
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DDG2P v0.1 | HOXA11 |
Rebecca Foulger gene: HOXA11 was added gene: HOXA11 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: HOXA11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: HOXA11 were set to 26581901 Phenotypes for gene: HOXA11 were set to Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia |
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DDG2P v0.1 | HOXA1 |
Rebecca Foulger gene: HOXA1 was added gene: HOXA1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HOXA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HOXA1 were set to 18412118; 16155570 Phenotypes for gene: HOXA1 were set to BOSLEY-SALIH-ALORAINY SYNDROME 601536 |
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DDG2P v0.1 | HNRNPU |
Rebecca Foulger gene: HNRNPU was added gene: HNRNPU was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HNRNPU was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: HNRNPU were set to 23934111 Phenotypes for gene: HNRNPU were set to EPILEPTIC ENCEPHALOPATHY |
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DDG2P v0.1 | HNRNPH2 |
Rebecca Foulger gene: HNRNPH2 was added gene: HNRNPH2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: HNRNPH2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: HNRNPH2 were set to 27545675 Phenotypes for gene: HNRNPH2 were set to Neurodevelopmental Disorder in Females Mode of pathogenicity for gene: HNRNPH2 was set to Other - please provide details in the comments |
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DDG2P v0.1 | HNF4A |
Rebecca Foulger gene: HNF4A was added gene: HNF4A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HNF4A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: HNF4A were set to 8945471 Phenotypes for gene: HNF4A were set to HNF4A-RELATED MATURITY-ONSET DIABETES OF THE YOUNG TYPE 1 125850 |
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DDG2P v0.1 | HNF1B |
Rebecca Foulger gene: HNF1B was added gene: HNF1B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HNF1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: HNF1B were set to 9398836; 11085914; 10484768; 15068978; 17440011; 11562418; 11317673; 10720943; 12675839; 15181075 Phenotypes for gene: HNF1B were set to RENAL CYSTS AND DIABETES SYNDROME 137920 |
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DDG2P v0.1 | HMX1 |
Rebecca Foulger gene: HMX1 was added gene: HMX1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: HMX1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HMX1 were set to 18423520 Phenotypes for gene: HMX1 were set to OCULOAURICULAR SYNDROME 612109 |
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DDG2P v0.1 | HMGCS2 |
Rebecca Foulger gene: HMGCS2 was added gene: HMGCS2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HMGCS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HMGCS2 were set to 11479731; 9727719; 12647205; 11228257; 9337379 Phenotypes for gene: HMGCS2 were set to 3-HYDROXY-3-METHYLGLUTARYL-COA SYNTHASE 2 DEFICIENCY 605911 Mode of pathogenicity for gene: HMGCS2 was set to Other - please provide details in the comments |
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DDG2P v0.1 | HMGCL |
Rebecca Foulger gene: HMGCL was added gene: HMGCL was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HMGCL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HMGCL were set to 9463337; 8617516; 11129331 Phenotypes for gene: HMGCL were set to 3-HYDROXY-3-METHYLGLUTARYL-COENZYME A LYASE DEFICIENCY 246450 |
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DDG2P v0.1 | HMGB3 |
Rebecca Foulger gene: HMGB3 was added gene: HMGB3 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: HMGB3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: HMGB3 were set to 24993872 Phenotypes for gene: HMGB3 were set to Colobomatous microphthalmia, microcephaly, intellectual disability, and short stature |
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DDG2P v0.1 | HLCS |
Rebecca Foulger gene: HLCS was added gene: HLCS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HLCS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HLCS were set to HOLOCARBOXYLASE SYNTHETASE DEFICIENCY 609018 |
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DDG2P v0.1 | HIVEP2 |
Rebecca Foulger gene: HIVEP2 was added gene: HIVEP2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HIVEP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: HIVEP2 were set to 26153216; 27003583 Phenotypes for gene: HIVEP2 were set to HIVEP2 associated syndromic developmental delay with intellectual disability |
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DDG2P v0.1 | HIST3H3 |
Rebecca Foulger gene: HIST3H3 was added gene: HIST3H3 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: HIST3H3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HIST3H3 were set to 21937992 Phenotypes for gene: HIST3H3 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION Mode of pathogenicity for gene: HIST3H3 was set to Other - please provide details in the comments |
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DDG2P v0.1 | HIST1H4J |
Rebecca Foulger gene: HIST1H4J was added gene: HIST1H4J was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: HIST1H4J was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: HIST1H4J were set to Intellectual disability with facial dysmorphism Mode of pathogenicity for gene: HIST1H4J was set to Other - please provide details in the comments |
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DDG2P v0.1 | HIST1H4C |
Rebecca Foulger gene: HIST1H4C was added gene: HIST1H4C was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: HIST1H4C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: HIST1H4C were set to 100000; 28920961 Phenotypes for gene: HIST1H4C were set to HIST1H4C Mode of pathogenicity for gene: HIST1H4C was set to Other - please provide details in the comments |
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DDG2P v0.1 | HIST1H4B |
Rebecca Foulger gene: HIST1H4B was added gene: HIST1H4B was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: HIST1H4B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HIST1H4B were set to 21937992 Phenotypes for gene: HIST1H4B were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION |
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DDG2P v0.1 | HIST1H1E |
Rebecca Foulger gene: HIST1H1E was added gene: HIST1H1E was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: HIST1H1E was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: HIST1H1E were set to 28475857 Phenotypes for gene: HIST1H1E were set to Childhood overgrowth |
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DDG2P v0.1 | HINT1 |
Rebecca Foulger gene: HINT1 was added gene: HINT1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HINT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HINT1 were set to 22961002 Phenotypes for gene: HINT1 were set to NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE 137200 |
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DDG2P v0.1 | HIBCH |
Rebecca Foulger gene: HIBCH was added gene: HIBCH was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HIBCH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HIBCH were set to 7122152 Phenotypes for gene: HIBCH were set to HIBCH DEFICIENCY 250620 |
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DDG2P v0.1 | HGSNAT |
Rebecca Foulger gene: HGSNAT was added gene: HGSNAT was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HGSNAT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HGSNAT were set to 18024218; 18518886; 16960811; 20825431; 17033958 Phenotypes for gene: HGSNAT were set to MUCOPOLYSACCHARIDOSIS TYPE 3C 252930 |
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DDG2P v0.1 | HEXB |
Rebecca Foulger gene: HEXB was added gene: HEXB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HEXB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HEXB were set to 571983; 9888387; 8045559; 2921040; 3014997; 2973515; 18758829; 7633435; 10724; 1531140 Phenotypes for gene: HEXB were set to GM2-GANGLIOSIDOSIS TYPE 2 268800 |
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DDG2P v0.1 | HEXA |
Rebecca Foulger gene: HEXA was added gene: HEXA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HEXA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HEXA were set to 1302612; 21937992; 1301958; 2934978; 2954459; 3362213; 9401004; 9603435; 1833974; 1825014; 15108204; 3754980; 1322637; 1301190; 2976595; 6959123; 1384323; 2961848; 9272736; 1483696; 2848800; 1837283; 2522679; 1827945; 1532289; 2140574; 14648242; 8757036; 8490625 Phenotypes for gene: HEXA were set to GM2-GANGLIOSIDOSIS TYPE 1 272800 |
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DDG2P v0.1 | HESX1 |
Rebecca Foulger gene: HESX1 was added gene: HESX1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: HESX1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: HESX1 were set to SEPTOOPTIC DYSPLASIA 256657 |
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DDG2P v0.1 | HECW2 |
Rebecca Foulger gene: HECW2 was added gene: HECW2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HECW2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: HECW2 were set to 27334371; 27389779 Phenotypes for gene: HECW2 were set to HECW2 Mode of pathogenicity for gene: HECW2 was set to Other - please provide details in the comments |
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DDG2P v0.1 | HDAC8 |
Rebecca Foulger gene: HDAC8 was added gene: HDAC8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HDAC8 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: HDAC8 were set to 22885700 Phenotypes for gene: HDAC8 were set to CORNELIA DE LANGE-LIKE SYNDROME |
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DDG2P v0.1 | HDAC4 |
Rebecca Foulger gene: HDAC4 was added gene: HDAC4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HDAC4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: HDAC4 were set to 20691407 Phenotypes for gene: HDAC4 were set to BRACHYDACTYLY-MENTAL RETARDATION SYNDROME 600430 |
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DDG2P v0.1 | HCN1 |
Rebecca Foulger gene: HCN1 was added gene: HCN1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HCN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: HCN1 were set to 24747641 Phenotypes for gene: HCN1 were set to EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24 615871 Mode of pathogenicity for gene: HCN1 was set to Other - please provide details in the comments |
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DDG2P v0.1 | HCFC1 |
Rebecca Foulger gene: HCFC1 was added gene: HCFC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HCFC1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: HCFC1 were set to 1870093; 23000143 Phenotypes for gene: HCFC1 were set to MENTAL RETARDATION, X-LINKED 3 309541 |
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DDG2P v0.1 | HCCS |
Rebecca Foulger gene: HCCS was added gene: HCCS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HCCS was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: HCCS were set to 17033964 Phenotypes for gene: HCCS were set to MICROPHTHALMIA SYNDROMIC TYPE 7 309801 |
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DDG2P v0.1 | HAX1 |
Rebecca Foulger gene: HAX1 was added gene: HAX1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HAX1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HAX1 were set to 18337561; 19036076; 18611981; 17187068 Phenotypes for gene: HAX1 were set to NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE 610738 |
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DDG2P v0.1 | HARS |
Rebecca Foulger gene: HARS was added gene: HARS was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: HARS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HARS were set to 22279524 Phenotypes for gene: HARS were set to USHER SYNDROME 614504 Mode of pathogenicity for gene: HARS was set to Other - please provide details in the comments |
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DDG2P v0.1 | HADHA |
Rebecca Foulger gene: HADHA was added gene: HADHA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HADHA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HADHA were set to 7811722 Phenotypes for gene: HADHA were set to LONG CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY 609016 |
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DDG2P v0.1 | HADH |
Rebecca Foulger gene: HADH was added gene: HADH was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HADH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HADH were set to 3-HYDROXYACYL-COENZYME A DEHYDROGENASE DEFICIENCY 231530 |
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DDG2P v0.1 | HACE1 |
Rebecca Foulger gene: HACE1 was added gene: HACE1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HACE1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HACE1 were set to 26424145; 26437029 Phenotypes for gene: HACE1 were set to HACE1 related disorder |
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DDG2P v0.1 | H3F3A |
Rebecca Foulger gene: H3F3A was added gene: H3F3A was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: H3F3A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: H3F3A were set to Craniofacial with neurodevelopment disorders Mode of pathogenicity for gene: H3F3A was set to Other - please provide details in the comments |
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DDG2P v0.1 | GZF1 |
Rebecca Foulger gene: GZF1 was added gene: GZF1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: GZF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GZF1 were set to 28475863 Phenotypes for gene: GZF1 were set to LARSEN SYNDROME |
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DDG2P v0.1 | GUSB |
Rebecca Foulger gene: GUSB was added gene: GUSB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GUSB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GUSB were set to 12522561; 1702266; 9490302; 6811712; 7633414; 1833732; 7573038; 4265197 Phenotypes for gene: GUSB were set to MUCOPOLYSACCHARIDOSIS TYPE 7 253220 |
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DDG2P v0.1 | GUCY2C |
Rebecca Foulger gene: GUCY2C was added gene: GUCY2C was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GUCY2C was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: GUCY2C were set to MECONIUM ILEUS |
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DDG2P v0.1 | GTPBP3 |
Rebecca Foulger gene: GTPBP3 was added gene: GTPBP3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GTPBP3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GTPBP3 were set to 25434004 Phenotypes for gene: GTPBP3 were set to MITOCHONDRIAL TRANSLATION DEFECT ASSOCIATED WITH HYPERTROPHIC CARDIOMYOPATHY, LACTIC ACIDOSIS, AND ENCEPHALOPATHY |
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DDG2P v0.1 | GTF2H5 |
Rebecca Foulger gene: GTF2H5 was added gene: GTF2H5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GTF2H5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GTF2H5 were set to TRICHOTHIODYSTROPHY PHOTOSENSITIVE 601675 |
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DDG2P v0.1 | GTF2E2 |
Rebecca Foulger gene: GTF2E2 was added gene: GTF2E2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: GTF2E2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GTF2E2 were set to 26996949 Phenotypes for gene: GTF2E2 were set to DNA Repair-Proficient Trichothiodystrophy Mode of pathogenicity for gene: GTF2E2 was set to Other - please provide details in the comments |
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DDG2P v0.1 | GSPT2 |
Rebecca Foulger gene: GSPT2 was added gene: GSPT2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: GSPT2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: GSPT2 were set to XL INTELLECTUAL DISABILITY |
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DDG2P v0.1 | GRM6 |
Rebecca Foulger gene: GRM6 was added gene: GRM6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GRM6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GRM6 were set to 15781871; 16249515; 17405131 Phenotypes for gene: GRM6 were set to NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B 257270 |
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DDG2P v0.1 | GRM1 |
Rebecca Foulger gene: GRM1 was added gene: GRM1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: GRM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GRM1 were set to 22901947 Phenotypes for gene: GRM1 were set to CONGENITAL CEREBELLAR ATAXIA 614831 |
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DDG2P v0.1 | GRIN2D |
Rebecca Foulger gene: GRIN2D was added gene: GRIN2D was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: GRIN2D was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GRIN2D were set to 27616483 Phenotypes for gene: GRIN2D were set to Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers Mode of pathogenicity for gene: GRIN2D was set to Other - please provide details in the comments |
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DDG2P v0.1 | GRIN2B |
Rebecca Foulger gene: GRIN2B was added gene: GRIN2B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GRIN2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GRIN2B were set to 23160955 Phenotypes for gene: GRIN2B were set to AUTISM 209850 |
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DDG2P v0.1 | GRIN2A |
Rebecca Foulger gene: GRIN2A was added gene: GRIN2A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GRIN2A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GRIN2A were set to 20890276; 23033978 Phenotypes for gene: GRIN2A were set to EPILEPSY WITH NEURODEVELOPMENTAL DEFECTS 613971 |
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DDG2P v0.1 | GRIN1 |
Rebecca Foulger gene: GRIN1 was added gene: GRIN1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GRIN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GRIN1 were set to 23934111; 27164704 Phenotypes for gene: GRIN1 were set to EPILEPTIC ENCEPHALOPATHY Mode of pathogenicity for gene: GRIN1 was set to Other - please provide details in the comments |
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DDG2P v0.1 | GRIK2 |
Rebecca Foulger gene: GRIK2 was added gene: GRIK2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GRIK2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GRIK2 were set to 17847003 Phenotypes for gene: GRIK2 were set to MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 6 611092 |
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DDG2P v0.1 | GRIA3 |
Rebecca Foulger gene: GRIA3 was added gene: GRIA3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GRIA3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: GRIA3 were set to 17989220 Phenotypes for gene: GRIA3 were set to MENTAL RETARDATION X-LINKED TYPE 94 300699 |
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DDG2P v0.1 | GRHL3 |
Rebecca Foulger gene: GRHL3 was added gene: GRHL3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GRHL3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GRHL3 were set to 24360809 Phenotypes for gene: GRHL3 were set to VAN DER WOUDE SYNDROME 119300 |
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DDG2P v0.1 | GRHL2 |
Rebecca Foulger gene: GRHL2 was added gene: GRHL2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: GRHL2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GRHL2 were set to ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME 616029 Mode of pathogenicity for gene: GRHL2 was set to Other - please provide details in the comments |
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DDG2P v0.1 | GPX4 |
Rebecca Foulger gene: GPX4 was added gene: GPX4 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: GPX4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GPX4 were set to 24706940 Phenotypes for gene: GPX4 were set to SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE 250220 |
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DDG2P v0.1 | GPSM2 |
Rebecca Foulger gene: GPSM2 was added gene: GPSM2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GPSM2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GPSM2 were set to 22578326 Phenotypes for gene: GPSM2 were set to CHUDLEY-MCCULLOUGH SYNDROME |
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DDG2P v0.1 | GPC6 |
Rebecca Foulger gene: GPC6 was added gene: GPC6 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: GPC6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GPC6 were set to 19481194 Phenotypes for gene: GPC6 were set to OMODYSPLASIA TYPE 1 (OMOD1) [ 258315 |
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DDG2P v0.1 | GPC3 |
Rebecca Foulger gene: GPC3 was added gene: GPC3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GPC3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: GPC3 were set to 16158429; 10814714; 18203194; 8589713; 9950367; 17850639 Phenotypes for gene: GPC3 were set to SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 312870 |
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DDG2P v0.1 | GPAA1 |
Rebecca Foulger gene: GPAA1 was added gene: GPAA1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: GPAA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GPAA1 were set to 29100095 Phenotypes for gene: GPAA1 were set to Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia |
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DDG2P v0.1 | GORAB |
Rebecca Foulger gene: GORAB was added gene: GORAB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GORAB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GORAB were set to 18997784 Phenotypes for gene: GORAB were set to Geroderma osteodysplasticum |
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DDG2P v0.1 | GON4L |
Rebecca Foulger gene: GON4L was added gene: GON4L was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: GON4L was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GON4L were set to 21937992 Phenotypes for gene: GON4L were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION |
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DDG2P v0.1 | GNS |
Rebecca Foulger gene: GNS was added gene: GNS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GNS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GNS were set to 6450420; 17998446; 19650410; 3100754; 12624138 Phenotypes for gene: GNS were set to MUCOPOLYSACCHARIDOSIS TYPE 3D 252940 |
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DDG2P v0.1 | GNPTG |
Rebecca Foulger gene: GNPTG was added gene: GNPTG was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GNPTG was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GNPTG were set to 20034096; 19659762; 10712439; 19370764 Phenotypes for gene: GNPTG were set to MUCOLIPIDOSIS TYPE III COMPLEMENTATION GROUP C 252605 |
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DDG2P v0.1 | GNPTAB |
Rebecca Foulger gene: GNPTAB was added gene: GNPTAB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GNPTAB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GNPTAB were set to 16200072; 16465621; 16116615 Phenotypes for gene: GNPTAB were set to MUCOLIPIDOSIS TYPE II 252500 |
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DDG2P v0.1 | GNPAT |
Rebecca Foulger gene: GNPAT was added gene: GNPAT was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GNPAT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GNPAT were set to 21990100; 9843043; 9536089; 1405476 Phenotypes for gene: GNPAT were set to RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 2 222765 |
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DDG2P v0.1 | GNB5 |
Rebecca Foulger gene: GNB5 was added gene: GNB5 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: GNB5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GNB5 were set to 27523599 Phenotypes for gene: GNB5 were set to Sinus Bradycardia and Cognitive Disability |
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DDG2P v0.1 | GNB3 |
Rebecca Foulger gene: GNB3 was added gene: GNB3 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: GNB3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GNB3 were set to 27063057 Phenotypes for gene: GNB3 were set to GNB3 Autosomal-Recessive Congenital Stationary Night Blindness. |
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DDG2P v0.1 | GNB1 |
Rebecca Foulger gene: GNB1 was added gene: GNB1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GNB1 were set to 27108799; 30194818 Phenotypes for gene: GNB1 were set to Severe Neurodevelopmental Disability, Hypotonia, and Seizures Mode of pathogenicity for gene: GNB1 was set to Other - please provide details in the comments |
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DDG2P v0.1 | GNAS |
Rebecca Foulger gene: GNAS was added gene: GNAS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GNAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GNAS were set to 11029463; 15592469; 18182455 Phenotypes for gene: GNAS were set to PSEUDOHYPOPARATHYROIDISM TYPE 1B 603233 |
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DDG2P v0.1 | GNAQ |
Rebecca Foulger gene: GNAQ was added gene: GNAQ was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: GNAQ was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GNAQ were set to 27058448 Phenotypes for gene: GNAQ were set to Congenital Hemangioma Mode of pathogenicity for gene: GNAQ was set to Other - please provide details in the comments |
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DDG2P v0.1 | GNAO1 |
Rebecca Foulger gene: GNAO1 was added gene: GNAO1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GNAO1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GNAO1 were set to 23993195 Phenotypes for gene: GNAO1 were set to EPILEPTIC ENCEPHALOPATHY |
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DDG2P v0.1 | GNAI3 |
Rebecca Foulger gene: GNAI3 was added gene: GNAI3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GNAI3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GNAI3 were set to 11102934 Phenotypes for gene: GNAI3 were set to AURICULOCONDYLAR SYNDROME 602483 Mode of pathogenicity for gene: GNAI3 was set to Other - please provide details in the comments |
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DDG2P v0.1 | GNAI1 |
Rebecca Foulger gene: GNAI1 was added gene: GNAI1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GNAI1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GNAI1 were set to GNAI1 syndrome |
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DDG2P v0.1 | GNA14 |
Rebecca Foulger gene: GNA14 was added gene: GNA14 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: GNA14 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GNA14 were set to 27476652 Phenotypes for gene: GNA14 were set to Congenital vascular tumours Mode of pathogenicity for gene: GNA14 was set to Other - please provide details in the comments |
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DDG2P v0.1 | GNA11 |
Rebecca Foulger gene: GNA11 was added gene: GNA11 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: GNA11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GNA11 were set to 27058448 Phenotypes for gene: GNA11 were set to Congenital Hemangioma Mode of pathogenicity for gene: GNA11 was set to Other - please provide details in the comments |
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DDG2P v0.1 | GMPPB |
Rebecca Foulger gene: GMPPB was added gene: GMPPB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GMPPB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GMPPB were set to 23768512 Phenotypes for gene: GMPPB were set to MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14 615350 Mode of pathogenicity for gene: GMPPB was set to Other - please provide details in the comments |
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DDG2P v0.1 | GMPPA |
Rebecca Foulger gene: GMPPA was added gene: GMPPA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GMPPA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GMPPA were set to 24035193 Phenotypes for gene: GMPPA were set to GLYCOSYLATION DISORDER CHARACTERIZED BY INTELLECTUAL DISABILITY AND AUTONOMIC DYSFUNCTION |
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DDG2P v0.1 | GMNN |
Rebecca Foulger gene: GMNN was added gene: GMNN was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: GMNN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GMNN were set to 26637980 Phenotypes for gene: GMNN were set to Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome Mode of pathogenicity for gene: GMNN was set to Other - please provide details in the comments |
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DDG2P v0.1 | GM2A |
Rebecca Foulger gene: GM2A was added gene: GM2A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GM2A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GM2A were set to 8900233; 8244332; 10364519; 1915858 Phenotypes for gene: GM2A were set to GM2-GANGLIOSIDOSIS TYPE AB 272750 |
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DDG2P v0.1 | GLUL |
Rebecca Foulger gene: GLUL was added gene: GLUL was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GLUL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GLUL were set to 16267323; 21353613 Phenotypes for gene: GLUL were set to CONGENITAL SYSTEMIC GLUTAMINE DEFICIENCY 610015 Mode of pathogenicity for gene: GLUL was set to Other - please provide details in the comments |
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DDG2P v0.1 | GLUD1 |
Rebecca Foulger gene: GLUD1 was added gene: GLUD1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GLUD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GLUD1 were set to 10636977; 11214910; 9571255 Phenotypes for gene: GLUD1 were set to HYPERINSULINISM-HYPERAMMONEMIA SYNDROME 606762 Mode of pathogenicity for gene: GLUD1 was set to Other - please provide details in the comments |
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DDG2P v0.1 | GLMN |
Rebecca Foulger gene: GLMN was added gene: GLMN was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GLMN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GLMN were set to 11175297; 11845407 Phenotypes for gene: GLMN were set to GLOMUVENOUS MALFORMATIONS 138000 |
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DDG2P v0.1 | GLIS3 |
Rebecca Foulger gene: GLIS3 was added gene: GLIS3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GLIS3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GLIS3 were set to 12966531 Phenotypes for gene: GLIS3 were set to DIABETES MELLITUS NEONATAL WITH CONGENITAL HYPOTHYROIDISM 610199 |
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DDG2P v0.1 | GLIS2 |
Rebecca Foulger gene: GLIS2 was added gene: GLIS2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: GLIS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GLIS2 were set to 17618285 Phenotypes for gene: GLIS2 were set to NEPHRONOPHTHISIS 7 611498 |
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DDG2P v0.1 | GLI3 |
Rebecca Foulger gene: GLI3 was added gene: GLI3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GLI3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GLI3 were set to GREIG CEPHALOPOLYSYNDACTYLY SYNDROME 175700 |
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DDG2P v0.1 | GLI2 |
Rebecca Foulger gene: GLI2 was added gene: GLI2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GLI2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GLI2 were set to GLI2-RELATED HOLOPROSENCEPHALY 261768 |
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DDG2P v0.1 | GLE1 |
Rebecca Foulger gene: GLE1 was added gene: GLE1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GLE1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GLE1 were set to 18204449 Phenotypes for gene: GLE1 were set to ARTHROGRYPOSIS, LETHAL, WITH ANTERIOR HORN CELL DISEASE 611890 Mode of pathogenicity for gene: GLE1 was set to Other - please provide details in the comments |
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DDG2P v0.1 | GLDN |
Rebecca Foulger gene: GLDN was added gene: GLDN was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: GLDN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GLDN were set to 27616481 Phenotypes for gene: GLDN were set to Lethal arthroogryposis |
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DDG2P v0.1 | GLDC |
Rebecca Foulger gene: GLDC was added gene: GLDC was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GLDC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GLDC were set to 445864; 15864413; 9600239; 10798358; 9621520; 11592811; 8005589; 15824356; 15236413; 1634607; 10873393; 15851735 Phenotypes for gene: GLDC were set to GLDC-RELATED GLYCINE ENCEPHALOPATHY 605899 |
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DDG2P v0.1 | GLB1 |
Rebecca Foulger gene: GLB1 was added gene: GLB1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GLB1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GLB1 were set to 1928092; 11511921; 7586649; 10841810 Phenotypes for gene: GLB1 were set to MUCOPOLYSACCHARIDOSIS TYPE 4B 253010 |
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DDG2P v0.1 | GK |
Rebecca Foulger gene: GK was added gene: GK was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GK was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: GK were set to GLYCEROL KINASE DEFICIENCY 307030 |
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DDG2P v0.1 | GJC2 |
Rebecca Foulger gene: GJC2 was added gene: GJC2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GJC2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: GJC2 were set to 20537300 Phenotypes for gene: GJC2 were set to LYMPHEDEMA, HEREDITARY, IC 613480 Mode of pathogenicity for gene: GJC2 was set to Other - please provide details in the comments |
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DDG2P v0.1 | GJB3 |
Rebecca Foulger gene: GJB3 was added gene: GJB3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GJB3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: GJB3 were set to ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 133200 |
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DDG2P v0.1 | GJB2 |
Rebecca Foulger gene: GJB2 was added gene: GJB2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GJB2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: GJB2 were set to 11556849; 15253766; 12121355; 8789457; 9471561; 9336442; 11313763; 10218527; 12239718; 9328482; 9139825; 10633133; 9819448; 10982182; 17660464 Phenotypes for gene: GJB2 were set to DEAFNESS AUTOSOMAL RECESSIVE TYPE 1A 220290 |
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DDG2P v0.1 | GJA8 |
Rebecca Foulger gene: GJA8 was added gene: GJA8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GJA8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GJA8 were set to 16604058; 10480374; 18006672; 11846744; 9497259; 14627691 Phenotypes for gene: GJA8 were set to CATARACT ZONULAR PULVERULENT TYPE 1 116200 Mode of pathogenicity for gene: GJA8 was set to Other - please provide details in the comments |
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DDG2P v0.1 | GJA3 |
Rebecca Foulger gene: GJA3 was added gene: GJA3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GJA3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GJA3 were set to 10205266; 22550389; 21681855; 22876138; 15448617; 10746562; 22312188 Phenotypes for gene: GJA3 were set to CATARACT ZONULAR PULVERULENT CATARACT TYPE 3 601885 Mode of pathogenicity for gene: GJA3 was set to Other - please provide details in the comments |
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DDG2P v0.1 | GJA1 |
Rebecca Foulger gene: GJA1 was added gene: GJA1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: GJA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: GJA1 were set to 14981729 Phenotypes for gene: GJA1 were set to HALLERMANN-STREIFF SYNDROME 234100 |
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DDG2P v0.1 | GHR |
Rebecca Foulger gene: GHR was added gene: GHR was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GHR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GHR were set to 9360529; 12679461; 15001620; 2813379; 17405847; 15536163; 2779634; 8488849; 11468686; 8626815; 9851797; 9661642; 2233903; 9467570 Phenotypes for gene: GHR were set to PITUITARY DWARFISM II 262500 |
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DDG2P v0.1 | GFM1 |
Rebecca Foulger gene: GFM1 was added gene: GFM1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GFM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GFM1 were set to 17160893 Phenotypes for gene: GFM1 were set to COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1 609060 |
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DDG2P v0.1 | GFER |
Rebecca Foulger gene: GFER was added gene: GFER was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: GFER was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GFER were set to 19409522 Phenotypes for gene: GFER were set to MITOCHONDRIAL PROGRESSIVE MYOPATHY WITH CONGENITAL CATARACT HEARING LOSS AND DEVELOPMENTAL DELAY (MPMCHD 613076 |
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DDG2P v0.1 | GFAP |
Rebecca Foulger gene: GFAP was added gene: GFAP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GFAP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GFAP were set to 14557587; 12975300; 11567214; 12034796; 11138011; 12447932 Phenotypes for gene: GFAP were set to ALEXANDER DISEASE 203450 Mode of pathogenicity for gene: GFAP was set to Other - please provide details in the comments |
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DDG2P v0.1 | GDI1 |
Rebecca Foulger gene: GDI1 was added gene: GDI1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GDI1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: GDI1 were set to MENTAL RETARDATION X-LINKED TYPE 41 300104 |
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DDG2P v0.1 | GDF6 |
Rebecca Foulger gene: GDF6 was added gene: GDF6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GDF6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GDF6 were set to 18425797; 19129173 Phenotypes for gene: GDF6 were set to KLIPPEL-FEIL SYNDROME TYPE 1 118100 Mode of pathogenicity for gene: GDF6 was set to Other - please provide details in the comments |
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DDG2P v0.1 | GDF5 |
Rebecca Foulger gene: GDF5 was added gene: GDF5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GDF5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: GDF5 were set to 12900894; 9288098; 12124730 Phenotypes for gene: GDF5 were set to ACROMESOMELIC CHONDRODYSPLASIA GREBE TYPE 200700 Mode of pathogenicity for gene: GDF5 was set to Other - please provide details in the comments |
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DDG2P v0.1 | GDF3 |
Rebecca Foulger gene: GDF3 was added gene: GDF3 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: GDF3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GDF3 were set to MICROPHTHALMIA ISOLATED TYPE 7 613704 Mode of pathogenicity for gene: GDF3 was set to Other - please provide details in the comments |
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DDG2P v0.1 | GDF1 |
Rebecca Foulger gene: GDF1 was added gene: GDF1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: GDF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GDF1 were set to TETRALOGY OF FALLOT 187500 |
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DDG2P v0.1 | GCSH |
Rebecca Foulger gene: GCSH was added gene: GCSH was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: GCSH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GCSH were set to GLYCINE ENCEPHALOPATHY 605899 |
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DDG2P v0.1 | GCH1 |
Rebecca Foulger gene: GCH1 was added gene: GCH1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GCH1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: GCH1 were set to 7730309; 12552057; 10987649; 9667588 Phenotypes for gene: GCH1 were set to GTP CYCLOHYDROLASE 1 DEFICIENCY 233910 Mode of pathogenicity for gene: GCH1 was set to Other - please provide details in the comments |
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DDG2P v0.1 | GCDH |
Rebecca Foulger gene: GCDH was added gene: GCDH was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GCDH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GCDH were set to 11174631; 8900227; 10699052; 7795610; 8900228 Phenotypes for gene: GCDH were set to GLUTARICACIDEMIA TYPE 1 231670 Mode of pathogenicity for gene: GCDH was set to Other - please provide details in the comments |
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DDG2P v0.1 | GBA2 |
Rebecca Foulger gene: GBA2 was added gene: GBA2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GBA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GBA2 were set to 23332917 Phenotypes for gene: GBA2 were set to AUTOSOMAL-RECESSIVE CEREBELLAR ATAXIA WITH SPASTICITY. |
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DDG2P v0.1 | GBA |
Rebecca Foulger gene: GBA was added gene: GBA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GBA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GBA were set to GAUCHER DISEASE TYPE 1 230800 |
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DDG2P v0.1 | GATM |
Rebecca Foulger gene: GATM was added gene: GATM was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GATM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GATM were set to 10762163 Phenotypes for gene: GATM were set to ARGININE:GLYCINE AMIDINOTRANSFERASE DEFICIENCY 612718 |
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DDG2P v0.1 | GATAD2B |
Rebecca Foulger gene: GATAD2B was added gene: GATAD2B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GATAD2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GATAD2B were set to 23644463 Phenotypes for gene: GATAD2B were set to NONSPECIFIC SEVERE ID |
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DDG2P v0.1 | GATA6 |
Rebecca Foulger gene: GATA6 was added gene: GATA6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GATA6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GATA6 were set to 20581743 Phenotypes for gene: GATA6 were set to ATRIOVENTRICULAR SEPTAL DEFECT 5 614474 |
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DDG2P v0.1 | GATA4 |
Rebecca Foulger gene: GATA4 was added gene: GATA4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GATA4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GATA4 were set to 17643447; 20659440; 12845333; 15810002; 20347099; 18055909 Phenotypes for gene: GATA4 were set to ATRIAL SEPTAL DEFECT TYPE 2 607941 |
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DDG2P v0.1 | GATA2 |
Rebecca Foulger gene: GATA2 was added gene: GATA2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GATA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GATA2 were set to 21892158; 20803646 Phenotypes for gene: GATA2 were set to EMBERGER SYNDROME 614038 |
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DDG2P v0.1 | GAS8 |
Rebecca Foulger gene: GAS8 was added gene: GAS8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GAS8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GAS8 were set to 26387594 Phenotypes for gene: GAS8 were set to PRIMARY CILIARY DYSKINESIA |
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DDG2P v0.1 | GAMT |
Rebecca Foulger gene: GAMT was added gene: GAMT was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GAMT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GAMT were set to 17101918; 15651030; 8651275 Phenotypes for gene: GAMT were set to GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY 612736 |
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DDG2P v0.1 | GALT |
Rebecca Foulger gene: GALT was added gene: GALT was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GALT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GALT were set to 2011574; 10439960; 9012409; 9222760; 8869397; 1610789; 2233247; 1897530 Phenotypes for gene: GALT were set to GALACTOSEMIA 230400 |
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DDG2P v0.1 | GALNS |
Rebecca Foulger gene: GALNS was added gene: GALNS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GALNS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GALNS were set to MUCOPOLYSACCHARIDOSIS TYPE 4A 253000 |
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DDG2P v0.1 | GALK1 |
Rebecca Foulger gene: GALK1 was added gene: GALK1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GALK1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GALK1 were set to 10790206; 7670469; 11231902; 10521295 Phenotypes for gene: GALK1 were set to GALACTOSEMIA II 230200 |
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DDG2P v0.1 | GALE |
Rebecca Foulger gene: GALE was added gene: GALE was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GALE was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GALE were set to 9538513; 9326324; 9973283 Phenotypes for gene: GALE were set to EPIMERASE-DEFICIENCY GALACTOSEMIA 230350 |
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DDG2P v0.1 | GALC |
Rebecca Foulger gene: GALC was added gene: GALC was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GALC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GALC were set to 21070211; 8786069; 20886637; 8297359 Phenotypes for gene: GALC were set to KRABBE DISEASE 245200 |
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DDG2P v0.1 | GAD1 |
Rebecca Foulger gene: GAD1 was added gene: GAD1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: GAD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GAD1 were set to 15571623 Phenotypes for gene: GAD1 were set to CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 1 603513 Mode of pathogenicity for gene: GAD1 was set to Other - please provide details in the comments |
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DDG2P v0.1 | GABRG2 |
Rebecca Foulger gene: GABRG2 was added gene: GABRG2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: GABRG2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GABRG2 were set to GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 3 611277 |
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DDG2P v0.1 | GABRB3 |
Rebecca Foulger gene: GABRB3 was added gene: GABRB3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GABRB3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GABRB3 were set to 18514161 Phenotypes for gene: GABRB3 were set to CHILDHOOD ABSENCE EPILEPSY TYPE 5 612269 Mode of pathogenicity for gene: GABRB3 was set to Other - please provide details in the comments |
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DDG2P v0.1 | GABRB2 |
Rebecca Foulger gene: GABRB2 was added gene: GABRB2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: GABRB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GABRB2 were set to 29100083 Phenotypes for gene: GABRB2 were set to Epilepsy and intellectual disability Mode of pathogenicity for gene: GABRB2 was set to Other - please provide details in the comments |
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DDG2P v0.1 | GABRA1 |
Rebecca Foulger gene: GABRA1 was added gene: GABRA1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: GABRA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GABRA1 were set to 11992121 Phenotypes for gene: GABRA1 were set to JUVENILE MYOCLONIC EPILEPSY 611136 |
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DDG2P v0.1 | GABBR2 |
Rebecca Foulger gene: GABBR2 was added gene: GABBR2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: GABBR2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GABBR2 were set to 25262651 Phenotypes for gene: GABBR2 were set to EPILEPTIC ENCEPHALOPATHY Mode of pathogenicity for gene: GABBR2 was set to Other - please provide details in the comments |
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DDG2P v0.1 | GAA |
Rebecca Foulger gene: GAA was added gene: GAA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GAA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GAA were set to 1652892; 8834250; 7881425; 17616415; 15668445; 9529346; 7945303; 1898413; 7881422; 3865697 Phenotypes for gene: GAA were set to GLYCOGEN STORAGE DISEASE TYPE II 232300 |
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DDG2P v0.1 | FZD6 |
Rebecca Foulger gene: FZD6 was added gene: FZD6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FZD6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FZD6 were set to 21665003 Phenotypes for gene: FZD6 were set to NAIL DISORDER NON-SYNDROMIC CONGENITAL TYPE 10 614157 |
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DDG2P v0.1 | FZD5 |
Rebecca Foulger gene: FZD5 was added gene: FZD5 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: FZD5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FZD5 were set to 26908622 Phenotypes for gene: FZD5 were set to Autosomal Dominant Coloboma Mode of pathogenicity for gene: FZD5 was set to Other - please provide details in the comments |
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DDG2P v0.1 | FYCO1 |
Rebecca Foulger gene: FYCO1 was added gene: FYCO1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FYCO1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FYCO1 were set to 21636066; 11519376 Phenotypes for gene: FYCO1 were set to CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 2 610019 |
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DDG2P v0.1 | FUCA1 |
Rebecca Foulger gene: FUCA1 was added gene: FUCA1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FUCA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FUCA1 were set to 1281988; 8401503; 2012122; 9762612; 2642067; 8097260 Phenotypes for gene: FUCA1 were set to FUCOSIDOSIS 230000 |
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DDG2P v0.1 | FTSJ1 |
Rebecca Foulger gene: FTSJ1 was added gene: FTSJ1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FTSJ1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: FTSJ1 were set to 10398246; 8288232; 15162322 Phenotypes for gene: FTSJ1 were set to MENTAL RETARDATION X-LINKED TYPE 44 309549 |
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DDG2P v0.1 | FTO |
Rebecca Foulger gene: FTO was added gene: FTO was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: FTO was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FTO were set to 19559399 Phenotypes for gene: FTO were set to GROWTH RETARDATION DEVELOPMENTAL DELAY COARSE FACIES AND EARLY DEATH 612938 Mode of pathogenicity for gene: FTO was set to Other - please provide details in the comments |
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DDG2P v0.1 | FTL |
Rebecca Foulger gene: FTL was added gene: FTL was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FTL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FTL were set to 9414300; 10759702; 9292547; 7669675; 12200611; 9414313; 9226182; 7493028; 19176363; 11849230 Phenotypes for gene: FTL were set to HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME 600886 |
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DDG2P v0.1 | FTCD |
Rebecca Foulger gene: FTCD was added gene: FTCD was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FTCD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FTCD were set to 12815595 Phenotypes for gene: FTCD were set to GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY 229100 |
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DDG2P v0.1 | FRY |
Rebecca Foulger gene: FRY was added gene: FRY was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: FRY was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FRY were set to 21937992 Phenotypes for gene: FRY were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION |
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DDG2P v0.1 | FRRS1L |
Rebecca Foulger gene: FRRS1L was added gene: FRRS1L was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: FRRS1L was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FRRS1L were set to 27239025; 27236917 Phenotypes for gene: FRRS1L were set to Epileptic encephalopathy with continuous spike-and-wave during sleep |
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DDG2P v0.1 | FRMPD4 |
Rebecca Foulger gene: FRMPD4 was added gene: FRMPD4 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: FRMPD4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: FRMPD4 were set to 25644381 Phenotypes for gene: FRMPD4 were set to Intellectual Disability |
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DDG2P v0.1 | FRMD7 |
Rebecca Foulger gene: FRMD7 was added gene: FRMD7 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FRMD7 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: FRMD7 were set to 18087240; 19072571; 21746984; 16240070; 17962394; 17013395 Phenotypes for gene: FRMD7 were set to NYSTAGMUS 1, CONGENITAL, X-LINKED 310700 |
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DDG2P v0.1 | FREM2 |
Rebecca Foulger gene: FREM2 was added gene: FREM2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FREM2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FREM2 were set to FRASER SYNDROME 219000 |
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DDG2P v0.1 | FREM1 |
Rebecca Foulger gene: FREM1 was added gene: FREM1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FREM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FREM1 were set to 17352387; 11332973 Phenotypes for gene: FREM1 were set to MANITOBA OCULOTRICHOANAL SYNDROME 248450 |
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DDG2P v0.1 | FRAS1 |
Rebecca Foulger gene: FRAS1 was added gene: FRAS1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FRAS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FRAS1 were set to 12766769; 15838507; 17163535; 18203166; 16894541; 18671281 Phenotypes for gene: FRAS1 were set to FRASER SYNDROME 219000 |
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DDG2P v0.1 | FOXRED1 |
Rebecca Foulger gene: FOXRED1 was added gene: FOXRED1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FOXRED1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FOXRED1 were set to 10944442; 20818383; 10080174; 23553477; 12616398; 11349233; 22499348; 10330338; 19185523; 20382551; 15824269; 16200211; 9463323; 11181577; 20858599; 15159508; 9837812; 17262856; 21203893 Phenotypes for gene: FOXRED1 were set to MITOCHONDRIAL COMPLEX I DEFICIENCY 252010 |
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DDG2P v0.1 | FOXP3 |
Rebecca Foulger gene: FOXP3 was added gene: FOXP3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FOXP3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: FOXP3 were set to 11137993; 17635943; 11120765; 11137992; 14671208 Phenotypes for gene: FOXP3 were set to IPEX SYNDROME 304790 |
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DDG2P v0.1 | FOXP2 |
Rebecca Foulger gene: FOXP2 was added gene: FOXP2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: FOXP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FOXP2 were set to 2332125; 15877281 Phenotypes for gene: FOXP2 were set to SPEECH-LANGUAGE DISORDER 1 602081 |
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DDG2P v0.1 | FOXP1 |
Rebecca Foulger gene: FOXP1 was added gene: FOXP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FOXP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FOXP1 were set to 20950788 Phenotypes for gene: FOXP1 were set to MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES 613670 |
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DDG2P v0.1 | FOXN1 |
Rebecca Foulger gene: FOXN1 was added gene: FOXN1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FOXN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FOXN1 were set to 8911612 Phenotypes for gene: FOXN1 were set to ALOPECIA AND T-CELL IMMUNODEFICIENCY 601705 |
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DDG2P v0.1 | FOXL2 |
Rebecca Foulger gene: FOXL2 was added gene: FOXL2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: FOXL2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FOXL2 were set to 11468277; 21325395; 12400065; 12938087; 12567411; 17089161; 11175783; 12630957; 11776388; 12529855 Phenotypes for gene: FOXL2 were set to BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS SYNDROME 110100 |
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DDG2P v0.1 | FOXG1 |
Rebecca Foulger gene: FOXG1 was added gene: FOXG1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FOXG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FOXG1 were set to 19578037; 21441262; 19564653; 18571142 Phenotypes for gene: FOXG1 were set to CONGENITAL VARIANT OF RETT SYNDROME 613454 |
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DDG2P v0.1 | FOXF1 |
Rebecca Foulger gene: FOXF1 was added gene: FOXF1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FOXF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: FOXF1 were set to ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS 265380 |
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DDG2P v0.1 | FOXE3 |
Rebecca Foulger gene: FOXE3 was added gene: FOXE3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FOXE3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: FOXE3 were set to 11159941 Phenotypes for gene: FOXE3 were set to CONGENITAL PRIMARY APHAKIA 610256 |
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DDG2P v0.1 | FOXE1 |
Rebecca Foulger gene: FOXE1 was added gene: FOXE1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FOXE1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FOXE1 were set to BAMFORTH-LAZARUS SYNDROME 241850 Mode of pathogenicity for gene: FOXE1 was set to Other - please provide details in the comments |
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DDG2P v0.1 | FOXC2 |
Rebecca Foulger gene: FOXC2 was added gene: FOXC2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FOXC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FOXC2 were set to 12485195; 11499682; 14269895; 10417285; 11371511; 15523639; 12114478; 11078474 Phenotypes for gene: FOXC2 were set to LYMPHEDEMA-DISTICHIASIS SYNDROME 153400 |
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DDG2P v0.1 | FOXC1 |
Rebecca Foulger gene: FOXC1 was added gene: FOXC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FOXC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FOXC1 were set to 11170889; 10713890; 18498376; 9792859; 17210863; 9620769; 9326342 Phenotypes for gene: FOXC1 were set to AXENFELD-RIEGER SYNDROME TYPE 3 602482 |
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DDG2P v0.1 | FOLR1 |
Rebecca Foulger gene: FOLR1 was added gene: FOLR1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FOLR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FOLR1 were set to 21937992; 19732866 Phenotypes for gene: FOLR1 were set to NEURODEGENERATION DUE TO CEREBRAL FOLATE TRANSPORT DEFICIENCY 613068 |
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DDG2P v0.1 | FN1 |
Rebecca Foulger gene: FN1 was added gene: FN1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: FN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FN1 were set to 29100092 Phenotypes for gene: FN1 were set to Spondylometaphyseal Dysplasia with Corner Fractures Mode of pathogenicity for gene: FN1 was set to Other - please provide details in the comments |
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DDG2P v0.1 | FMR1 |
Rebecca Foulger gene: FMR1 was added gene: FMR1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FMR1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: FMR1 were set to FRAGILE X TREMOR/ATAXIA SYNDROME 300623 |
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DDG2P v0.1 | FMN2 |
Rebecca Foulger gene: FMN2 was added gene: FMN2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: FMN2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FMN2 were set to 25480035 Phenotypes for gene: FMN2 were set to NONSYNDROMIC AUTOSOMAL-RECESSIVE INTELLECTUAL DISABILITY |
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DDG2P v0.1 | FLVCR2 |
Rebecca Foulger gene: FLVCR2 was added gene: FLVCR2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FLVCR2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FLVCR2 were set to 25677735; 20518025; 19635601; 20206334 Phenotypes for gene: FLVCR2 were set to PROLIFERATIVE VASCULOPATHY AND HYDRAENCEPHALY-HYDROCEPHALY SYNDROME 225790 |
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DDG2P v0.1 | FLVCR1 |
Rebecca Foulger gene: FLVCR1 was added gene: FLVCR1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FLVCR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FLVCR1 were set to 21070897; 9409377; 21267618 Phenotypes for gene: FLVCR1 were set to ATAXIA, POSTERIOR COLUMN, WITH RETINITIS PIGMENTOSA 609033 Mode of pathogenicity for gene: FLVCR1 was set to Other - please provide details in the comments |
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DDG2P v0.1 | FLT4 |
Rebecca Foulger gene: FLT4 was added gene: FLT4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FLT4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FLT4 were set to 12960217; 10835628; 16965327; 10856194; 19289394; 16924388 Phenotypes for gene: FLT4 were set to MILROY DISEASE 153100 Mode of pathogenicity for gene: FLT4 was set to Other - please provide details in the comments |
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DDG2P v0.1 | FLNB |
Rebecca Foulger gene: FLNB was added gene: FLNB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FLNB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: FLNB were set to 18257094; 14991055; 18386804 Phenotypes for gene: FLNB were set to SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME 272460 |
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DDG2P v0.1 | FLNA |
Rebecca Foulger gene: FLNA was added gene: FLNA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FLNA was set to X linked: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: FLNA were set to 15654694; 15940695; 12612583; 16596676 Phenotypes for gene: FLNA were set to OTOPALATODIGITAL SYNDROME TYPE 1 311300 |
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DDG2P v0.1 | FLG |
Rebecca Foulger gene: FLG was added gene: FLG was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: FLG was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FLG were set to 16444271; 17291859 Phenotypes for gene: FLG were set to ICHTHYOSIS VULGARIS 146700 |
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DDG2P v0.1 | FLAD1 |
Rebecca Foulger gene: FLAD1 was added gene: FLAD1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FLAD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FLAD1 were set to 27259049 Phenotypes for gene: FLAD1 were set to Riboflavin-Responsive and Non-responsive Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency. |
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DDG2P v0.1 | FKTN |
Rebecca Foulger gene: FKTN was added gene: FKTN was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FKTN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FKTN were set to MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITHOUT MENTAL RETARDATION TYPE B4 613152 |
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DDG2P v0.1 | FKRP |
Rebecca Foulger gene: FKRP was added gene: FKRP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FKRP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FKRP were set to 11741828; 14523375; 12707439; 14647208 Phenotypes for gene: FKRP were set to MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C5 607155 |
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DDG2P v0.1 | FKBP14 |
Rebecca Foulger gene: FKBP14 was added gene: FKBP14 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FKBP14 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FKBP14 were set to EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS |
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DDG2P v0.1 | FIG4 |
Rebecca Foulger gene: FIG4 was added gene: FIG4 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: FIG4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FIG4 were set to 17572665 Phenotypes for gene: FIG4 were set to CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J 611228 |
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DDG2P v0.1 | FHL1 |
Rebecca Foulger gene: FHL1 was added gene: FHL1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FHL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: FHL1 were set to 19716112; 18179888; 19687455 Phenotypes for gene: FHL1 were set to EMERY-DREIFUSS MUSCULAR DYSTROPHY 6, X-LINKED 300696 |
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DDG2P v0.1 | FH |
Rebecca Foulger gene: FH was added gene: FH was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FH were set to FUMARASE DEFICIENCY 606812 |
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DDG2P v0.1 | FGFR3 |
Rebecca Foulger gene: FGFR3 was added gene: FGFR3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FGFR3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: FGFR3 were set to LACRIMO-AURICULO-DENTO-DIGITAL SYNDROME 149730 Mode of pathogenicity for gene: FGFR3 was set to Other - please provide details in the comments |
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DDG2P v0.1 | FGFR2 |
Rebecca Foulger gene: FGFR2 was added gene: FGFR2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FGFR2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FGFR2 were set to 17621648; 15523492; 7581378; 9152842; 7874170; 7607643; 8528214; 7987400; 7655462; 9677057; 22038757 Phenotypes for gene: FGFR2 were set to CROUZON SYNDROME 123500 Mode of pathogenicity for gene: FGFR2 was set to Other - please provide details in the comments |
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DDG2P v0.1 | FGFR1 |
Rebecca Foulger gene: FGFR1 was added gene: FGFR1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FGFR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FGFR1 were set to 7422392; 15625620 Phenotypes for gene: FGFR1 were set to OSTEOGLOPHONIC DYSPLASIA 166250 |
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DDG2P v0.1 | FGF9 |
Rebecca Foulger gene: FGF9 was added gene: FGF9 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: FGF9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FGF9 were set to 19589401 Phenotypes for gene: FGF9 were set to MULTIPLE SYNOSTOSES SYNDROME TYPE 3 612961 |
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DDG2P v0.1 | FGF3 |
Rebecca Foulger gene: FGF3 was added gene: FGF3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FGF3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FGF3 were set to 18701883; 18435799; 17236138; 21480479 Phenotypes for gene: FGF3 were set to DEAFNESS WITH LABYRINTHINE APLASIA, MICROTIA AND MICRODONTIA 610706 |
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DDG2P v0.1 | FGF12 |
Rebecca Foulger gene: FGF12 was added gene: FGF12 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FGF12 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FGF12 were set to 27830185; 27164707; 27872899 Phenotypes for gene: FGF12 were set to EPILEPTIC ENCEPHALOPATHY Mode of pathogenicity for gene: FGF12 was set to Other - please provide details in the comments |
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DDG2P v0.1 | FGF10 |
Rebecca Foulger gene: FGF10 was added gene: FGF10 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FGF10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FGF10 were set to 16501574; 16630169 Phenotypes for gene: FGF10 were set to LADD SYNDROME 149730 |
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DDG2P v0.1 | FGD1 |
Rebecca Foulger gene: FGD1 was added gene: FGD1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FGD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: FGD1 were set to 14560308; 20082460; 16353258; 11940089; 17152066; 11093277; 16688726; 15809997; 7954831; 10930571; 17847065 Phenotypes for gene: FGD1 were set to AARSKOG-SCOTT SYNDROME 305400 |
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DDG2P v0.1 | FEZF1 |
Rebecca Foulger gene: FEZF1 was added gene: FEZF1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: FEZF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FEZF1 were set to 25192046 Phenotypes for gene: FEZF1 were set to HYPOGONADOTROPIC HYPOGONADISM WITH OR WITHOUT ANOSMIA 616030 |
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DDG2P v0.1 | FBXW4 |
Rebecca Foulger gene: FBXW4 was added gene: FBXW4 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: FBXW4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: FBXW4 were set to SPLIT-HAND/FOOT MALFORMATION TYPE 3 246560 Mode of pathogenicity for gene: FBXW4 was set to part of contiguous gene duplication |
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DDG2P v0.1 | FBXO25 |
Rebecca Foulger gene: FBXO25 was added gene: FBXO25 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: FBXO25 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: FBXO25 were set to F-BOX ONLY PROTEIN 25 609098 Mode of pathogenicity for gene: FBXO25 was set to Other - please provide details in the comments |
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DDG2P v0.1 | FBXO11 |
Rebecca Foulger gene: FBXO11 was added gene: FBXO11 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: FBXO11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FBXO11 were set to 27620904; 30057029 Phenotypes for gene: FBXO11 were set to FBXO11 related intellectual disability |
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DDG2P v0.1 | FBXL4 |
Rebecca Foulger gene: FBXL4 was added gene: FBXL4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FBXL4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FBXL4 were set to 23993194 Phenotypes for gene: FBXL4 were set to FATAL ENCEPHALOPATHY, LACTIC ACIDOSIS, AND SEVERE MTDNA DEPLETION IN MUSCLE |
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DDG2P v0.1 | FBP1 |
Rebecca Foulger gene: FBP1 was added gene: FBP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FBP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FBP1 were set to 12126934; 7763253 Phenotypes for gene: FBP1 were set to FRUCTOSE 1,6 BISPHOSPHATASE DEFICIENCY 229700 |
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DDG2P v0.1 | FBN2 |
Rebecca Foulger gene: FBN2 was added gene: FBN2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FBN2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FBN2 were set to 10797416; 11281275; 9199560; 8900230; 9737771; 20799338; 9106527 Phenotypes for gene: FBN2 were set to CONGENITAL CONTRACTURAL ARACHNODACTYLY 121050 Mode of pathogenicity for gene: FBN2 was set to Other - please provide details in the comments |
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DDG2P v0.1 | FBN1 |
Rebecca Foulger gene: FBN1 was added gene: FBN1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: FBN1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: FBN1 were set to 17568394; 17366579; 16333834; 7611299; 10766875; 8136837; 1631074; 8428751; 11702223; 7762551; 8040326; 8281141; 15032979; 1301946; 1569206; 10441597; 11175294; 20979188; 8430317; 9101298; 9241263; 7911051; 9837823; 1852208; 8504310; 8101042; 21594993; 20082464; 15287423; 21594992; 18412115; 17492313; 8406497; 7633409 Phenotypes for gene: FBN1 were set to MARFAN SYNDROME 154700 |
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DDG2P v0.1 | FBLN1 |
Rebecca Foulger gene: FBLN1 was added gene: FBLN1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: FBLN1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FBLN1 were set to SYNPOLYDACTYLY, 3/3-PRIME/4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES 608180 Mode of pathogenicity for gene: FBLN1 was set to Other - please provide details in the comments |
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DDG2P v0.1 | FAT4 |
Rebecca Foulger gene: FAT4 was added gene: FAT4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FAT4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FAT4 were set to 24056717 Phenotypes for gene: FAT4 were set to PERIVENTRICULAR NEURONAL HETEROTOPIA |
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DDG2P v0.1 | FASN |
Rebecca Foulger gene: FASN was added gene: FASN was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: FASN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FASN were set to 21937992 Phenotypes for gene: FASN were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION Mode of pathogenicity for gene: FASN was set to Other - please provide details in the comments |
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DDG2P v0.1 | FAR1 |
Rebecca Foulger gene: FAR1 was added gene: FAR1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FAR1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FAR1 were set to SEVERE INTELLECTUAL DISABILITY, EPILEPSY, AND CATARACTS |
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DDG2P v0.1 | FANCM |
Rebecca Foulger gene: FANCM was added gene: FANCM was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: FANCM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FANCM were set to FANCONI ANEMIA 229154 |
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DDG2P v0.1 | FANCL |
Rebecca Foulger gene: FANCL was added gene: FANCL was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: FANCL was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FANCL were set to FANCL-RELATED FANCONI ANEMIA 234480 |
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DDG2P v0.1 | FANCI |
Rebecca Foulger gene: FANCI was added gene: FANCI was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FANCI was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FANCI were set to FANCI-RELATED FANCONI ANEMIA 234476 |
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DDG2P v0.1 | FANCG |
Rebecca Foulger gene: FANCG was added gene: FANCG was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FANCG was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FANCG were set to 12552564; 10807541; 15657175; 9806548 Phenotypes for gene: FANCG were set to FANCONI ANEMIA, COMPLEMENTATION GROUP G 614082 |
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DDG2P v0.1 | FANCF |
Rebecca Foulger gene: FANCF was added gene: FANCF was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FANCF was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FANCF were set to 10615118; 9382107 Phenotypes for gene: FANCF were set to FANCONI ANEMIA, COMPLEMENTATION GROUP F 603467 |
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DDG2P v0.1 | FANCE |
Rebecca Foulger gene: FANCE was added gene: FANCE was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FANCE was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FANCE were set to 10205272; 11001585; 9382107 Phenotypes for gene: FANCE were set to FANCONI ANEMIA, COMPLEMENTATION GROUP E 600901 |
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DDG2P v0.1 | FANCD2 |
Rebecca Foulger gene: FANCD2 was added gene: FANCD2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FANCD2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FANCD2 were set to 11239453 Phenotypes for gene: FANCD2 were set to FANCONI ANEMIA, COMPLEMENTATION GROUP D2 227646 |
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DDG2P v0.1 | FANCC |
Rebecca Foulger gene: FANCC was added gene: FANCC was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FANCC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FANCC were set to 20869034; 8348157; 10431244 Phenotypes for gene: FANCC were set to FANCONI ANEMIA, COMPLEMENTATION GROUP C 227645 |
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DDG2P v0.1 | FANCB |
Rebecca Foulger gene: FANCB was added gene: FANCB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FANCB was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: FANCB were set to FANCB-RELATED FANCONI ANEMIA 229139 |
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DDG2P v0.1 | FANCA |
Rebecca Foulger gene: FANCA was added gene: FANCA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FANCA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FANCA were set to 8896564; 10431244; 12447395; 11344308; 12827451; 15523645 Phenotypes for gene: FANCA were set to FANCONI ANEMIA, COMPLEMENTATION GROUP A 227650 |
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DDG2P v0.1 | FAM58A |
Rebecca Foulger gene: FAM58A was added gene: FAM58A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FAM58A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FAM58A were set to 18297069; 8818947 Phenotypes for gene: FAM58A were set to STAR SYNDROME 300707 |
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DDG2P v0.1 | FAM20C |
Rebecca Foulger gene: FAM20C was added gene: FAM20C was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FAM20C was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FAM20C were set to 19250384; 20825432; 17924334 Phenotypes for gene: FAM20C were set to RAINE SYNDROME 259775 |
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DDG2P v0.1 | FAM20A |
Rebecca Foulger gene: FAM20A was added gene: FAM20A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FAM20A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FAM20A were set to 21549343 Phenotypes for gene: FAM20A were set to AMELOGENESIS IMPERFECTA AND GINGIVAL FIBROMATOSIS SYNDROME 614253 |
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DDG2P v0.1 | FAM161A |
Rebecca Foulger gene: FAM161A was added gene: FAM161A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FAM161A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FAM161A were set to RETINITIS PIGMENTOSA 28 606068 |
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DDG2P v0.1 | FAM126A |
Rebecca Foulger gene: FAM126A was added gene: FAM126A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FAM126A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FAM126A were set to 16951682; 17928815 Phenotypes for gene: FAM126A were set to LEUKODYSTROPHY HYPOMYELINATING TYPE 5 610532 |
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DDG2P v0.1 | FAM111A |
Rebecca Foulger gene: FAM111A was added gene: FAM111A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FAM111A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FAM111A were set to 23684011 Phenotypes for gene: FAM111A were set to KENNY-CAFFEY SYNDROME 127000 Mode of pathogenicity for gene: FAM111A was set to Other - please provide details in the comments |
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DDG2P v0.1 | FAH |
Rebecca Foulger gene: FAH was added gene: FAH was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FAH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FAH were set to 7977370; 11196105; 8829657; 7757089; 1401056; 8364576; 8162054; 8318997 Phenotypes for gene: FAH were set to TYROSINEMIA TYPE 1 276700 |
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DDG2P v0.1 | EZH2 |
Rebecca Foulger gene: EZH2 was added gene: EZH2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: EZH2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: EZH2 were set to WEAVER SYNDROME 2 614421 Mode of pathogenicity for gene: EZH2 was set to Other - please provide details in the comments |
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DDG2P v0.1 | EYA1 |
Rebecca Foulger gene: EYA1 was added gene: EYA1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: EYA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: EYA1 were set to 5365063; 9361030; 19206155; 10655545; 9020840 Phenotypes for gene: EYA1 were set to BRANCHIOOTORENAL SYNDROME TYPE 1 113650 |
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DDG2P v0.1 | EXT2 |
Rebecca Foulger gene: EXT2 was added gene: EXT2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: EXT2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: EXT2 were set to EXOSTOSES, MULTIPLE, TYPE 2 133701 |
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DDG2P v0.1 | EXT1 |
Rebecca Foulger gene: EXT1 was added gene: EXT1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: EXT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: EXT1 were set to 8981950; 9326317; 15253765; 7550340 Phenotypes for gene: EXT1 were set to HEREDITARY MULTIPLE EXOSTOSES TYPE 1 133700 |
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DDG2P v0.1 | EXPH5 |
Rebecca Foulger gene: EXPH5 was added gene: EXPH5 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: EXPH5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EXPH5 were set to 23176819 Phenotypes for gene: EXPH5 were set to INHERITED SKIN FRAGILITY 615028 |
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DDG2P v0.1 | EXOSC3 |
Rebecca Foulger gene: EXOSC3 was added gene: EXOSC3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: EXOSC3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EXOSC3 were set to PONTOCEREBELLAR HYPOPLASIA TYPE 1 607596 Mode of pathogenicity for gene: EXOSC3 was set to Other - please provide details in the comments |
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DDG2P v0.1 | EVC2 |
Rebecca Foulger gene: EVC2 was added gene: EVC2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: EVC2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EVC2 were set to ELLIS-VAN CREVELD SYNDROME 225500 |
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DDG2P v0.1 | EVC |
Rebecca Foulger gene: EVC was added gene: EVC was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: EVC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EVC were set to ACROFACIAL DYSOSTOSIS WEYERS TYPE 193530 |
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DDG2P v0.1 | ETHE1 |
Rebecca Foulger gene: ETHE1 was added gene: ETHE1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ETHE1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ETHE1 were set to 14732903; 20528888; 18593870 Phenotypes for gene: ETHE1 were set to ETHYLMALONIC ENCEPHALOPATHY 602473 |
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DDG2P v0.1 | ETFDH |
Rebecca Foulger gene: ETFDH was added gene: ETFDH was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ETFDH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ETFDH were set to GLUTARIC ACIDURIA TYPE 2C 231680 |
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DDG2P v0.1 | ETFB |
Rebecca Foulger gene: ETFB was added gene: ETFB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ETFB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ETFB were set to GLUTARIC ACIDURIA TYPE 2B 231680 |
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DDG2P v0.1 | ETFA |
Rebecca Foulger gene: ETFA was added gene: ETFA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ETFA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ETFA were set to 7912128; 17412732; 12815589; 19249206; 1430199; 1882842 Phenotypes for gene: ETFA were set to GLUTARIC ACIDURIA TYPE 2A 231680 |
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DDG2P v0.1 | ESCO2 |
Rebecca Foulger gene: ESCO2 was added gene: ESCO2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ESCO2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ESCO2 were set to 3740099 Phenotypes for gene: ESCO2 were set to SC PHOCOMELIA SYNDROME 269000 |
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DDG2P v0.1 | ERMARD |
Rebecca Foulger gene: ERMARD was added gene: ERMARD was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: ERMARD was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ERMARD were set to 24056535 Phenotypes for gene: ERMARD were set to PERIVENTRICULAR HETEROTOPIA |
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DDG2P v0.1 | ERLIN2 |
Rebecca Foulger gene: ERLIN2 was added gene: ERLIN2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: ERLIN2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERLIN2 were set to 21937992 Phenotypes for gene: ERLIN2 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION Mode of pathogenicity for gene: ERLIN2 was set to Other - please provide details in the comments |
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DDG2P v0.1 | ERF |
Rebecca Foulger gene: ERF was added gene: ERF was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ERF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ERF were set to 23354439 Phenotypes for gene: ERF were set to COMPLEX CRANIOSYNOSTOSIS |
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DDG2P v0.1 | ERCC8 |
Rebecca Foulger gene: ERCC8 was added gene: ERCC8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ERCC8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERCC8 were set to 7664335; 14661080; 15744458 Phenotypes for gene: ERCC8 were set to COCKAYNE SYNDROME TYPE A 216400 |
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DDG2P v0.1 | ERCC6L2 |
Rebecca Foulger gene: ERCC6L2 was added gene: ERCC6L2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ERCC6L2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERCC6L2 were set to 24507776 Phenotypes for gene: ERCC6L2 were set to BONE MARROW FAILURE SYNDROME 2 615715 |
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DDG2P v0.1 | ERCC6 |
Rebecca Foulger gene: ERCC6 was added gene: ERCC6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ERCC6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ERCC6 were set to DE SANCTIS-CACCHIONE SYNDROME 278800 |
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DDG2P v0.1 | ERCC5 |
Rebecca Foulger gene: ERCC5 was added gene: ERCC5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ERCC5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERCC5 were set to 11219864; 23255472; 9096355; 12060391; 7951246; 8818951; 11841555; 11228268 Phenotypes for gene: ERCC5 were set to XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP G 278780 |
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DDG2P v0.1 | ERCC4 |
Rebecca Foulger gene: ERCC4 was added gene: ERCC4 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: ERCC4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERCC4 were set to 23623386 Phenotypes for gene: ERCC4 were set to FANCONI ANEMIA, COMPLEMENTATION GROUP Q 615272 |
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DDG2P v0.1 | ERCC3 |
Rebecca Foulger gene: ERCC3 was added gene: ERCC3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ERCC3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERCC3 were set to 4811796; 16947863; 8408834 Phenotypes for gene: ERCC3 were set to XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP B 610651 |
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DDG2P v0.1 | ERCC2 |
Rebecca Foulger gene: ERCC2 was added gene: ERCC2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ERCC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERCC2 were set to 11443545 Phenotypes for gene: ERCC2 were set to CEREBRO-OCULO-FACIO-SKELETAL SYNDROME TYPE 2 610756 |
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DDG2P v0.1 | ERCC1 |
Rebecca Foulger gene: ERCC1 was added gene: ERCC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ERCC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERCC1 were set to 23623389 Phenotypes for gene: ERCC1 were set to FANCONI ANEMIA 229154 |
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DDG2P v0.1 | ERBB3 |
Rebecca Foulger gene: ERBB3 was added gene: ERBB3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: ERBB3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ERBB3 were set to LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 2 607598 Mode of pathogenicity for gene: ERBB3 was set to Other - please provide details in the comments |
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DDG2P v0.1 | EPHB4 |
Rebecca Foulger gene: EPHB4 was added gene: EPHB4 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: EPHB4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: EPHB4 were set to 28687708; 29444212 Phenotypes for gene: EPHB4 were set to Capillary malformation-arteriovenous malformation 2 |
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DDG2P v0.1 | EPG5 |
Rebecca Foulger gene: EPG5 was added gene: EPG5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: EPG5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EPG5 were set to 23222957; 3344762 Phenotypes for gene: EPG5 were set to IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM 242840 |
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DDG2P v0.1 | EPB41L1 |
Rebecca Foulger gene: EPB41L1 was added gene: EPB41L1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: EPB41L1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: EPB41L1 were set to 21376300 Phenotypes for gene: EPB41L1 were set to INTELLECTUAL DISABILITY Mode of pathogenicity for gene: EPB41L1 was set to Other - please provide details in the comments |
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DDG2P v0.1 | EP300 |
Rebecca Foulger gene: EP300 was added gene: EP300 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: EP300 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: EP300 were set to 17299436; 20014264; 19353645; 15706485 Phenotypes for gene: EP300 were set to RUBINSTEIN-TAYBI SYNDROME TYPE 2 613684 |
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DDG2P v0.1 | EOMES |
Rebecca Foulger gene: EOMES was added gene: EOMES was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: EOMES was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EOMES were set to 17353897 Phenotypes for gene: EOMES were set to POLYMICROGYRIA AND CORPUS CALLOSUM AGENESIS |
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DDG2P v0.1 | EOGT |
Rebecca Foulger gene: EOGT was added gene: EOGT was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: EOGT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EOGT were set to 23522784 Phenotypes for gene: EOGT were set to ADAMS OLIVER SYNDROME |
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DDG2P v0.1 | ENTPD1 |
Rebecca Foulger gene: ENTPD1 was added gene: ENTPD1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: ENTPD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ENTPD1 were set to 21937992 Phenotypes for gene: ENTPD1 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION Mode of pathogenicity for gene: ENTPD1 was set to Other - please provide details in the comments |
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DDG2P v0.1 | ENPP1 |
Rebecca Foulger gene: ENPP1 was added gene: ENPP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ENPP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ENPP1 were set to 20137773; 20137772 Phenotypes for gene: ENPP1 were set to HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 2 613312 |
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DDG2P v0.1 | EMX2 |
Rebecca Foulger gene: EMX2 was added gene: EMX2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: EMX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: EMX2 were set to FAMILIAL SCHIZENCEPHALY, EMX2-RELATED 269160 |
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DDG2P v0.1 | EMG1 |
Rebecca Foulger gene: EMG1 was added gene: EMG1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: EMG1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EMG1 were set to 26676230; 19463982; 25708872; 27798105 Phenotypes for gene: EMG1 were set to Bowen-Conradi syndrome Mode of pathogenicity for gene: EMG1 was set to Other - please provide details in the comments |
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DDG2P v0.1 | EMC1 |
Rebecca Foulger gene: EMC1 was added gene: EMC1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: EMC1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: EMC1 were set to Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy. |
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DDG2P v0.1 | ELP2 |
Rebecca Foulger gene: ELP2 was added gene: ELP2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: ELP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ELP2 were set to 21937992 Phenotypes for gene: ELP2 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION Mode of pathogenicity for gene: ELP2 was set to Other - please provide details in the comments |
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DDG2P v0.1 | ELOVL4 |
Rebecca Foulger gene: ELOVL4 was added gene: ELOVL4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ELOVL4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ELOVL4 were set to 22100072 Phenotypes for gene: ELOVL4 were set to ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION 614457 |
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DDG2P v0.1 | ELN |
Rebecca Foulger gene: ELN was added gene: ELN was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ELN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ELN were set to ELN-RELATED CUTIS LAXA 314088 |
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DDG2P v0.1 | ELMO2 |
Rebecca Foulger gene: ELMO2 was added gene: ELMO2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: ELMO2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ELMO2 were set to 27476657 Phenotypes for gene: ELMO2 were set to Intraosseous Vascular Malformation |
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DDG2P v0.1 | ELAC2 |
Rebecca Foulger gene: ELAC2 was added gene: ELAC2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ELAC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ELAC2 were set to 23849775; 27769300 Phenotypes for gene: ELAC2 were set to INFANTILE HYPERTROPHIC CARDIOMYOPATHY, LACTIC ACIDOSIS, AND ISOLATED COMPLEX I DEFICIENCY 252010 |
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DDG2P v0.1 | EIF4A3 |
Rebecca Foulger gene: EIF4A3 was added gene: EIF4A3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: EIF4A3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EIF4A3 were set to 24360810 Phenotypes for gene: EIF4A3 were set to RICHIERI-COSTA-PEREIRA SYNDROME Mode of pathogenicity for gene: EIF4A3 was set to Other - please provide details in the comments |
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DDG2P v0.1 | EIF2S3 |
Rebecca Foulger gene: EIF2S3 was added gene: EIF2S3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: EIF2S3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: EIF2S3 were set to 27333055; 23063529 Phenotypes for gene: EIF2S3 were set to Syndromic ID with severe microcephaly |
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DDG2P v0.1 | EIF2AK3 |
Rebecca Foulger gene: EIF2AK3 was added gene: EIF2AK3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: EIF2AK3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EIF2AK3 were set to 16813601; 12960215; 10932183; 7551159 Phenotypes for gene: EIF2AK3 were set to WOLCOTT-RALLISON SYNDROME 226980 |
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DDG2P v0.1 | EHMT1 |
Rebecca Foulger gene: EHMT1 was added gene: EHMT1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: EHMT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: EHMT1 were set to 19264732; 16826528 Phenotypes for gene: EHMT1 were set to 9Q SUBTELOMERIC DELETION SYNDROME 610253 |
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DDG2P v0.1 | EGR2 |
Rebecca Foulger gene: EGR2 was added gene: EGR2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: EGR2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EGR2 were set to NEUROPATHY, CONGENITAL HYPOMYELINATING, 1 605253 |
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DDG2P v0.1 | EFTUD2 |
Rebecca Foulger gene: EFTUD2 was added gene: EFTUD2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: EFTUD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: EFTUD2 were set to 22541558; 16760738; 19334086; 22305528; 23188108 Phenotypes for gene: EFTUD2 were set to MANDIBULOFACIAL DYSOSTOSIS WITH MICROCEPHALY 610536 |
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DDG2P v0.1 | EFNB1 |
Rebecca Foulger gene: EFNB1 was added gene: EFNB1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: EFNB1 was set to x-linked over-dominance Publications for gene: EFNB1 were set to 16685650; 15166289; 15124102 Phenotypes for gene: EFNB1 were set to CRANIOFRONTONASAL SYNDROME 304110 |
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DDG2P v0.1 | EEF1B2 |
Rebecca Foulger gene: EEF1B2 was added gene: EEF1B2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: EEF1B2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EEF1B2 were set to 21937992 Phenotypes for gene: EEF1B2 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION |
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DDG2P v0.1 | EEF1A2 |
Rebecca Foulger gene: EEF1A2 was added gene: EEF1A2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: EEF1A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: EEF1A2 were set to 23647072 Phenotypes for gene: EEF1A2 were set to INFANTILE EPILEPTIC ENCEPHALOPATHY Mode of pathogenicity for gene: EEF1A2 was set to Other - please provide details in the comments |
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DDG2P v0.1 | EED |
Rebecca Foulger gene: EED was added gene: EED was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: EED was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: EED were set to 28475857; 27193220; 25787343; 27868325 Phenotypes for gene: EED were set to Weaver-like overgrowth syndrome Mode of pathogenicity for gene: EED was set to Other - please provide details in the comments |
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DDG2P v0.1 | EDNRB |
Rebecca Foulger gene: EDNRB was added gene: EDNRB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: EDNRB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: EDNRB were set to 7778600 Phenotypes for gene: EDNRB were set to ABCD SYNDROME 600501 |
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DDG2P v0.1 | EDNRA |
Rebecca Foulger gene: EDNRA was added gene: EDNRA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: EDNRA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: EDNRA were set to 25772936 Phenotypes for gene: EDNRA were set to MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA Mode of pathogenicity for gene: EDNRA was set to Other - please provide details in the comments |
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DDG2P v0.1 | EDN1 |
Rebecca Foulger gene: EDN1 was added gene: EDN1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: EDN1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: EDN1 were set to 24268655 Phenotypes for gene: EDN1 were set to AURICULOCONDYLAR SYNDROME 602483 |
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DDG2P v0.1 | EDAR |
Rebecca Foulger gene: EDAR was added gene: EDAR was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: EDAR was set to Phenotypes for gene: EDAR were set to Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive |
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DDG2P v0.1 | EDA |
Rebecca Foulger gene: EDA was added gene: EDA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: EDA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: EDA were set to 8696334; 12949972; 9683615; 19264582; 19921643; 9507389; 9856856; 17066260 Phenotypes for gene: EDA were set to ECTODERMAL DYSPLASIA TYPE 1 305100 |
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DDG2P v0.1 | ECEL1 |
Rebecca Foulger gene: ECEL1 was added gene: ECEL1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ECEL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ECEL1 were set to 23261301 Phenotypes for gene: ECEL1 were set to DISTAL ARTHROGRYPOSIS TYPE 5D 615065 |
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DDG2P v0.1 | EBP |
Rebecca Foulger gene: EBP was added gene: EBP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: EBP was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: EBP were set to 10942423; 10391218; 10391219; 11038443; 12503101 Phenotypes for gene: EBP were set to CHONDRODYSPLASIA PUNCTATA 2, X-LINKED 302960 |
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DDG2P v0.1 | EBF3 |
Rebecca Foulger gene: EBF3 was added gene: EBF3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: EBF3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: EBF3 were set to 28017370; 28017372; 28017373 Phenotypes for gene: EBF3 were set to Intellectual Disability, Ataxia, and Facial Dysmorphism |
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DDG2P v0.1 | DYRK1A |
Rebecca Foulger gene: DYRK1A was added gene: DYRK1A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DYRK1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DYRK1A were set to 21294719; 23160955; 23099646 Phenotypes for gene: DYRK1A were set to MENTAL RETARDATION AUTOSOMAL DOMINANT TYPE 7 614104 |
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DDG2P v0.1 | DYNC2H1 |
Rebecca Foulger gene: DYNC2H1 was added gene: DYNC2H1 was added to DDG2P. Sources: Mode of inheritance for gene: DYNC2H1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DYNC2H1 were set to 19442771 Phenotypes for gene: DYNC2H1 were set to ASPHYXIATING THORACIC DYSTROPHY TYPE 3 613091 |
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DDG2P v0.1 | DYNC1H1 |
Rebecca Foulger gene: DYNC1H1 was added gene: DYNC1H1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DYNC1H1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DYNC1H1 were set to 22459677 Phenotypes for gene: DYNC1H1 were set to SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, AD 158600 Mode of pathogenicity for gene: DYNC1H1 was set to Other - please provide details in the comments |
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DDG2P v0.1 | DYM |
Rebecca Foulger gene: DYM was added gene: DYM was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DYM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DYM were set to 19005420; 12491225 Phenotypes for gene: DYM were set to SMITH-MCCORT DYSPLASIA 607326 |
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DDG2P v0.1 | DVL3 |
Rebecca Foulger gene: DVL3 was added gene: DVL3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DVL3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DVL3 were set to 26924530 Phenotypes for gene: DVL3 were set to AUTOSOMAL-DOMINANT ROBINOW SYNDROME Mode of pathogenicity for gene: DVL3 was set to Other - please provide details in the comments |
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DDG2P v0.1 | DVL1 |
Rebecca Foulger gene: DVL1 was added gene: DVL1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DVL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DVL1 were set to 25817016 Phenotypes for gene: DVL1 were set to AUTOSOMAL-DOMINANT ROBINOW SYNDROME Mode of pathogenicity for gene: DVL1 was set to Other - please provide details in the comments |
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DDG2P v0.1 | DSTYK |
Rebecca Foulger gene: DSTYK was added gene: DSTYK was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DSTYK was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DSTYK were set to 23862974 Phenotypes for gene: DSTYK were set to CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1 610805 |
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DDG2P v0.1 | DSPP |
Rebecca Foulger gene: DSPP was added gene: DSPP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DSPP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DSPP were set to 11175790 Phenotypes for gene: DSPP were set to DEAFNESS AUTOSOMAL DOMINANT TYPE 39 WITH DENTINOGENESIS IMPERFECTA 1 605594 |
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DDG2P v0.1 | DSG1 |
Rebecca Foulger gene: DSG1 was added gene: DSG1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: DSG1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DSG1 were set to 23974871 Phenotypes for gene: DSG1 were set to SEVERE DERMATITIS, MULTIPLE ALLERGIES AND METABOLIC WASTING |
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DDG2P v0.1 | DSE |
Rebecca Foulger gene: DSE was added gene: DSE was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: DSE was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DSE were set to 23704329 Phenotypes for gene: DSE were set to EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 2 615539 Mode of pathogenicity for gene: DSE was set to Other - please provide details in the comments |
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DDG2P v0.1 | DRC1 |
Rebecca Foulger gene: DRC1 was added gene: DRC1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: DRC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DRC1 were set to 23354437 Phenotypes for gene: DRC1 were set to PRIMARY CILARY DYSKINEASIA 244400 |
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DDG2P v0.1 | DPM3 |
Rebecca Foulger gene: DPM3 was added gene: DPM3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: DPM3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DPM3 were set to 19576565 Phenotypes for gene: DPM3 were set to CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1O 612937 |
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DDG2P v0.1 | DPM1 |
Rebecca Foulger gene: DPM1 was added gene: DPM1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DPM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DPM1 were set to 10642602; 10642597 Phenotypes for gene: DPM1 were set to CONGENITAL DISORDERS OF GLYCOSYLATION 612379 |
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DDG2P v0.1 | DPF2 |
Rebecca Foulger gene: DPF2 was added gene: DPF2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: DPF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DPF2 were set to 29429572 Phenotypes for gene: DPF2 were set to Coffin Siris like disorder Mode of pathogenicity for gene: DPF2 was set to Other - please provide details in the comments |
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DDG2P v0.1 | DPAGT1 |
Rebecca Foulger gene: DPAGT1 was added gene: DPAGT1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DPAGT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DPAGT1 were set to 22742743 Phenotypes for gene: DPAGT1 were set to MYASTHENIC SYNDROME, CONGENITAL, WITH TUBULAR AGGREGATES 2 614750 |
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DDG2P v0.1 | DOLK |
Rebecca Foulger gene: DOLK was added gene: DOLK was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DOLK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DOLK were set to 17273964; 22242004 Phenotypes for gene: DOLK were set to CONGENITAL DISORDERS OF GLYCOSYLATION 612379 Mode of pathogenicity for gene: DOLK was set to Other - please provide details in the comments |
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DDG2P v0.1 | DOCK8 |
Rebecca Foulger gene: DOCK8 was added gene: DOCK8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DOCK8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DOCK8 were set to 19776401 Phenotypes for gene: DOCK8 were set to HYPERIMMUNOGLOBULIN E RECURRENT INFECTION SYNDROME AUTOSOMAL RECESSIVE 243700 |
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DDG2P v0.1 | DOCK7 |
Rebecca Foulger gene: DOCK7 was added gene: DOCK7 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: DOCK7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DOCK7 were set to 24814191 Phenotypes for gene: DOCK7 were set to EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23 615859 |
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DDG2P v0.1 | DOCK6 |
Rebecca Foulger gene: DOCK6 was added gene: DOCK6 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: DOCK6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DOCK6 were set to 21820096 Phenotypes for gene: DOCK6 were set to ADAMS-OLIVER SYNDROME 2 614219 |
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DDG2P v0.1 | DNMT3B |
Rebecca Foulger gene: DNMT3B was added gene: DNMT3B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DNMT3B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNMT3B were set to 12239717; 10555141; 10647011 Phenotypes for gene: DNMT3B were set to IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 242860 |
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DDG2P v0.1 | DNMT3A |
Rebecca Foulger gene: DNMT3A was added gene: DNMT3A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DNMT3A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DNMT3A were set to 24614070 Phenotypes for gene: DNMT3A were set to OVERGROWTH SYNDROME WITH INTELLECTUAL DISABILITY 615879 |
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DDG2P v0.1 | DNM1 |
Rebecca Foulger gene: DNM1 was added gene: DNM1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: DNM1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: DNM1 were set to EPILEPTIC ENCEPHALOPATHY Mode of pathogenicity for gene: DNM1 was set to Other - please provide details in the comments |
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DDG2P v0.1 | DNAJC12 |
Rebecca Foulger gene: DNAJC12 was added gene: DNAJC12 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: DNAJC12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNAJC12 were set to 28132689 Phenotypes for gene: DNAJC12 were set to Hyperphenylalaninemia, Dystonia, and Intellectual Disability |
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DDG2P v0.1 | DNAJB13 |
Rebecca Foulger gene: DNAJB13 was added gene: DNAJB13 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: DNAJB13 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNAJB13 were set to 27486783 Phenotypes for gene: DNAJB13 were set to Primary Ciliary Dyskinesia and Male Infertility |
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DDG2P v0.1 | DNAH5 |
Rebecca Foulger gene: DNAH5 was added gene: DNAH5 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: DNAH5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNAH5 were set to 27637300 Phenotypes for gene: DNAH5 were set to CILIARY DYSKINESIA, PRIMARY, 3 |
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DDG2P v0.1 | DNAAF5 |
Rebecca Foulger gene: DNAAF5 was added gene: DNAAF5 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: DNAAF5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNAAF5 were set to 23040496 Phenotypes for gene: DNAAF5 were set to CILIARY DYSKINESIA, PRIMARY, 18 614874 Mode of pathogenicity for gene: DNAAF5 was set to Other - please provide details in the comments |
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DDG2P v0.1 | DNAAF4 |
Rebecca Foulger gene: DNAAF4 was added gene: DNAAF4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DNAAF4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNAAF4 were set to 23872636 Phenotypes for gene: DNAAF4 were set to PRIMARY CILIARY DYSPLASIA |
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DDG2P v0.1 | DNAAF3 |
Rebecca Foulger gene: DNAAF3 was added gene: DNAAF3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DNAAF3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNAAF3 were set to 10745040; 22387996 Phenotypes for gene: DNAAF3 were set to PRIMARY CILIARY DYSKINEASIA 606763 |
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DDG2P v0.1 | DNA2 |
Rebecca Foulger gene: DNA2 was added gene: DNA2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: DNA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNA2 were set to 24389050 Phenotypes for gene: DNA2 were set to PRIMORDIAL DWARFISM SECKEL SYNDROME 8 615807 |
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DDG2P v0.1 | DMPK |
Rebecca Foulger gene: DMPK was added gene: DMPK was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DMPK was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: DMPK were set to DYSTROPHIA MYOTONICA TYPE 1 160900 Mode of pathogenicity for gene: DMPK was set to Other - please provide details in the comments |
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DDG2P v0.1 | DMP1 |
Rebecca Foulger gene: DMP1 was added gene: DMP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DMP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DMP1 were set to 17033625; 17033621 Phenotypes for gene: DMP1 were set to HYPOPHOSPHATEMIC RICKETS, AR 241520 |
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DDG2P v0.1 | DMD |
Rebecca Foulger gene: DMD was added gene: DMD was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DMD was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: DMD were set to 8301652; 1632439; 1757094; 8401537; 7881286; 9410897; 12754707; 7951253; 12522557; 12632325; 8279470 Phenotypes for gene: DMD were set to BECKER MUSCULAR DYSTROPHY 300376 |
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DDG2P v0.1 | DLX5 |
Rebecca Foulger gene: DLX5 was added gene: DLX5 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: DLX5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DLX5 were set to 22121204 Phenotypes for gene: DLX5 were set to SPLIT HAND AND FOOT MALFORMATION 220600 Mode of pathogenicity for gene: DLX5 was set to Other - please provide details in the comments |
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DDG2P v0.1 | DLL4 |
Rebecca Foulger gene: DLL4 was added gene: DLL4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DLL4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DLL4 were set to 26299364 Phenotypes for gene: DLL4 were set to ADAMS-OLIVER SYNDROME 6 616589 |
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DDG2P v0.1 | DLL3 |
Rebecca Foulger gene: DLL3 was added gene: DLL3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DLL3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DLL3 were set to 10742114; 2805381; 12791036 Phenotypes for gene: DLL3 were set to SPONDYLOCOSTAL DYSOSTOSIS TYPE 1 277300 |
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DDG2P v0.1 | DLG4 |
Rebecca Foulger gene: DLG4 was added gene: DLG4 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: DLG4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DLG4 were set to 27479843 Phenotypes for gene: DLG4 were set to DLG4 related intellectual disability |
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DDG2P v0.1 | DLG3 |
Rebecca Foulger gene: DLG3 was added gene: DLG3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DLG3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: DLG3 were set to MENTAL RETARDATION X-LINKED TYPE 90 300189 |
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DDG2P v0.1 | DLD |
Rebecca Foulger gene: DLD was added gene: DLD was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DLD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DLD were set to DIHYDROLIPOAMIDE DEHYDROGENASE (E3) DEFICIENCY 248600 |
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DDG2P v0.1 | DLAT |
Rebecca Foulger gene: DLAT was added gene: DLAT was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DLAT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DLAT were set to 16049940 Phenotypes for gene: DLAT were set to PYRUVATE DEHYDROGENASE E2 DEFICIENCY 245348 |
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DDG2P v0.1 | DKC1 |
Rebecca Foulger gene: DKC1 was added gene: DKC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DKC1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: DKC1 were set to DKC1-RELATED DYSKERATOSIS CONGENITA 314912 |
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DDG2P v0.1 | DIS3L2 |
Rebecca Foulger gene: DIS3L2 was added gene: DIS3L2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DIS3L2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DIS3L2 were set to 22306653; 6093533; 10508986 Phenotypes for gene: DIS3L2 were set to PERLMAN SYNDROME 267000 |
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DDG2P v0.1 | DIP2B |
Rebecca Foulger gene: DIP2B was added gene: DIP2B was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: DIP2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DIP2B were set to 17236128 Phenotypes for gene: DIP2B were set to MENTAL RETARDATION, FRA12A TYPE 136630 Mode of pathogenicity for gene: DIP2B was set to Other - please provide details in the comments |
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DDG2P v0.1 | DHX30 |
Rebecca Foulger gene: DHX30 was added gene: DHX30 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: DHX30 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DHX30 were set to 29100085 Phenotypes for gene: DHX30 were set to Neurodevelopmental Disorder Mode of pathogenicity for gene: DHX30 was set to Other - please provide details in the comments |
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DDG2P v0.1 | DHTKD1 |
Rebecca Foulger gene: DHTKD1 was added gene: DHTKD1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: DHTKD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DHTKD1 were set to 23141293 Phenotypes for gene: DHTKD1 were set to 2-AMINOADIPIC AND 2-OXOADIPIC ACIDURIA 204750 |
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DDG2P v0.1 | DHRS3 |
Rebecca Foulger gene: DHRS3 was added gene: DHRS3 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: DHRS3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DHRS3 were set to DHRS3 related craniosynostosis Mode of pathogenicity for gene: DHRS3 was set to Other - please provide details in the comments |
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DDG2P v0.1 | DHODH |
Rebecca Foulger gene: DHODH was added gene: DHODH was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DHODH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DHODH were set to 19915526 Phenotypes for gene: DHODH were set to POSTAXIAL ACROFACIAL DYSOSTOSIS 263750 |
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DDG2P v0.1 | DHFR |
Rebecca Foulger gene: DHFR was added gene: DHFR was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DHFR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DHFR were set to 21310277; 21310276 Phenotypes for gene: DHFR were set to MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY 613839 Mode of pathogenicity for gene: DHFR was set to Other - please provide details in the comments |
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DDG2P v0.1 | DHDDS |
Rebecca Foulger gene: DHDDS was added gene: DHDDS was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: DHDDS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DHDDS were set to 29100083 Phenotypes for gene: DHDDS were set to Epilepsy and intellectual disability Mode of pathogenicity for gene: DHDDS was set to Other - please provide details in the comments |
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DDG2P v0.1 | DHCR7 |
Rebecca Foulger gene: DHCR7 was added gene: DHCR7 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DHCR7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DHCR7 were set to 9683613; 10677299; 15952211; 16044199; 10814720; 11175299; 9653161; 9714007; 11857552; 20635399; 12794707; 12949967; 9634533 Phenotypes for gene: DHCR7 were set to SMITH-LEMLI-OPITZ SYNDROME 270400 |
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DDG2P v0.1 | DHCR24 |
Rebecca Foulger gene: DHCR24 was added gene: DHCR24 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DHCR24 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DHCR24 were set to DESMOSTEROLOSIS 238860 |
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DDG2P v0.1 | DGAT1 |
Rebecca Foulger gene: DGAT1 was added gene: DGAT1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: DGAT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DGAT1 were set to 23114594 Phenotypes for gene: DGAT1 were set to CONGENITAL DIARRHEAL DISORDERS |
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DDG2P v0.1 | DEPDC5 |
Rebecca Foulger gene: DEPDC5 was added gene: DEPDC5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DEPDC5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DEPDC5 were set to 9851433; 14510823; 23542701; 15329069; 10825362; 10577924 Phenotypes for gene: DEPDC5 were set to FAMILIAL FOCAL EPILEPSY WITH VARIABLE FOCI 604364 |
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DDG2P v0.1 | DENND5A |
Rebecca Foulger gene: DENND5A was added gene: DENND5A was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: DENND5A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DENND5A were set to 27866705 Phenotypes for gene: DENND5A were set to EPILEPTIC ENCEPHALOPATHY |
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DDG2P v0.1 | DEAF1 |
Rebecca Foulger gene: DEAF1 was added gene: DEAF1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: DEAF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DEAF1 were set to 24726472; 21076407 Phenotypes for gene: DEAF1 were set to MENTAL RETARDATION, AUTOSOMAL DOMINANT 24 615828 Mode of pathogenicity for gene: DEAF1 was set to Other - please provide details in the comments |
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DDG2P v0.1 | DDX6 |
Rebecca Foulger gene: DDX6 was added gene: DDX6 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: DDX6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: DDX6 were set to INTELLECTUAL DISABILITY Mode of pathogenicity for gene: DDX6 was set to Other - please provide details in the comments |
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DDG2P v0.1 | DDX59 |
Rebecca Foulger gene: DDX59 was added gene: DDX59 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: DDX59 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DDX59 were set to 23972372 Phenotypes for gene: DDX59 were set to OROFACIODIGITAL SYNDROME Mode of pathogenicity for gene: DDX59 was set to Other - please provide details in the comments |
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DDG2P v0.1 | DDX58 |
Rebecca Foulger gene: DDX58 was added gene: DDX58 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: DDX58 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DDX58 were set to 25620203 Phenotypes for gene: DDX58 were set to SINGLETON-MERTEN SYNDROME 182250 Mode of pathogenicity for gene: DDX58 was set to Other - please provide details in the comments |
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DDG2P v0.1 | DDX3X |
Rebecca Foulger gene: DDX3X was added gene: DDX3X was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DDX3X was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: DDX3X were set to 25533962 Phenotypes for gene: DDX3X were set to INTELLECTUAL DIABILITY |
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DDG2P v0.1 | DDX11 |
Rebecca Foulger gene: DDX11 was added gene: DDX11 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DDX11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DDX11 were set to 23033317; 20137776 Phenotypes for gene: DDX11 were set to WARSAW BREAKAGE SYNDROME 613398 |
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DDG2P v0.1 | DDR2 |
Rebecca Foulger gene: DDR2 was added gene: DDR2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DDR2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DDR2 were set to 19110212; 8434618 Phenotypes for gene: DDR2 were set to SPONDYLOEPIMETAPHYSEAL DYSPLASIA SHORT LIMB-HAND TYPE 271665 Mode of pathogenicity for gene: DDR2 was set to Other - please provide details in the comments |
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DDG2P v0.1 | DDOST |
Rebecca Foulger gene: DDOST was added gene: DDOST was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DDOST was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DDOST were set to 22305527 Phenotypes for gene: DDOST were set to CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR 614507 |
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DDG2P v0.1 | DDHD2 |
Rebecca Foulger gene: DDHD2 was added gene: DDHD2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DDHD2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DDHD2 were set to 23176823 Phenotypes for gene: DDHD2 were set to COMPLEX HEREDITARY SPASTIC PARAPLEGIA 615033 |
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DDG2P v0.1 | DDHD1 |
Rebecca Foulger gene: DDHD1 was added gene: DDHD1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DDHD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DDHD1 were set to 15786464; 23176821 Phenotypes for gene: DDHD1 were set to HEREDITARY SPASTIC PARAPLEGIA 615030 |
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DDG2P v0.1 | DDC |
Rebecca Foulger gene: DDC was added gene: DDC was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DDC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DDC were set to 20505134 Phenotypes for gene: DDC were set to AROMATIC L-AMINO-ACID DECARBOXYLASE DEFICIENCY 608643 |
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DDG2P v0.1 | DDB2 |
Rebecca Foulger gene: DDB2 was added gene: DDB2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DDB2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DDB2 were set to 10469312; 12812979; 8798680 Phenotypes for gene: DDB2 were set to XERODERMA PIGMENTOSUM, GROUP E, DDB-NEGATIVE SUBTYPE 278740 |
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DDG2P v0.1 | DCX |
Rebecca Foulger gene: DCX was added gene: DCX was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DCX was set to X linked: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: DCX were set to 11468322; 12552055; 10441340; 9489699; 9489700 Phenotypes for gene: DCX were set to SUBCORTICAL BAND HETEROTOPIA X-LINKED 300067 |
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DDG2P v0.1 | DCHS1 |
Rebecca Foulger gene: DCHS1 was added gene: DCHS1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DCHS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DCHS1 were set to 24056717 Phenotypes for gene: DCHS1 were set to PERIVENTRICULAR NEURONAL HETEROTOPIA |
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DDG2P v0.1 | DCDC2 |
Rebecca Foulger gene: DCDC2 was added gene: DCDC2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: DCDC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DCDC2 were set to 25557784 Phenotypes for gene: DCDC2 were set to RENAL-HEPATIC CILIOPATHY 616217 |
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DDG2P v0.1 | DCC |
Rebecca Foulger gene: DCC was added gene: DCC was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: DCC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DCC were set to 28250456 Phenotypes for gene: DCC were set to Midline-bridging neuronal commissure disruption, horizontal gaze palsy, scoliosis, and intellectual disability |
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DDG2P v0.1 | DCAF17 |
Rebecca Foulger gene: DCAF17 was added gene: DCAF17 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: DCAF17 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DCAF17 were set to WOODHOUSE-SAKATI SYNDROME 241080 |
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DDG2P v0.1 | DBT |
Rebecca Foulger gene: DBT was added gene: DBT was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DBT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DBT were set to MAPLE SYRUP URINE DISEASEQ 248600 |
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DDG2P v0.1 | DARS2 |
Rebecca Foulger gene: DARS2 was added gene: DARS2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DARS2 were set to 17384640 Phenotypes for gene: DARS2 were set to LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION 611105 |
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DDG2P v0.1 | DARS |
Rebecca Foulger gene: DARS was added gene: DARS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DARS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DARS were set to 23643384 Phenotypes for gene: DARS were set to HYPOMYELINATION WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY. 615281 Mode of pathogenicity for gene: DARS was set to Other - please provide details in the comments |
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DDG2P v0.1 | DAG1 |
Rebecca Foulger gene: DAG1 was added gene: DAG1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DAG1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DAG1 were set to 21388311 Phenotypes for gene: DAG1 were set to MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C7 613818 Mode of pathogenicity for gene: DAG1 was set to Other - please provide details in the comments |
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DDG2P v0.1 | D2HGDH |
Rebecca Foulger gene: D2HGDH was added gene: D2HGDH was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: D2HGDH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: D2HGDH were set to 15609246 Phenotypes for gene: D2HGDH were set to D-2-HYDROXYGLUTARIC ACIDURIA 1 600721 |
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DDG2P v0.1 | CYP2U1 |
Rebecca Foulger gene: CYP2U1 was added gene: CYP2U1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CYP2U1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CYP2U1 were set to 23176821 Phenotypes for gene: CYP2U1 were set to HEREDITARY SPASTIC PARAPLEGIA 615030 |
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DDG2P v0.1 | CYP24A1 |
Rebecca Foulger gene: CYP24A1 was added gene: CYP24A1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: CYP24A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CYP24A1 were set to 27394135 Phenotypes for gene: CYP24A1 were set to Hereditary 1,25-dihydroxyvitamin D-resistant rickets |
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DDG2P v0.1 | CYP1B1 |
Rebecca Foulger gene: CYP1B1 was added gene: CYP1B1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CYP1B1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CYP1B1 were set to 9463332; 10227395; 9497261; 15342693; 19643970; 12372064; 19807744; 9097971 Phenotypes for gene: CYP1B1 were set to PRIMARY CONGENITAL GLAUCOMA TYPE 3A 231300 Mode of pathogenicity for gene: CYP1B1 was set to Other - please provide details in the comments |
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DDG2P v0.1 | CYC1 |
Rebecca Foulger gene: CYC1 was added gene: CYC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CYC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CYC1 were set to 23910460 Phenotypes for gene: CYC1 were set to MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6 615453 Mode of pathogenicity for gene: CYC1 was set to Other - please provide details in the comments |
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DDG2P v0.1 | CYB5R3 |
Rebecca Foulger gene: CYB5R3 was added gene: CYB5R3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: CYB5R3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CYB5R3 were set to METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE 319395 |
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DDG2P v0.1 | CWC27 |
Rebecca Foulger gene: CWC27 was added gene: CWC27 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CWC27 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CWC27 were set to 28285769 Phenotypes for gene: CWC27 were set to Retinitis pigmentosa, skeletal anomalies and intellectual disability |
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DDG2P v0.1 | CUX2 |
Rebecca Foulger gene: CUX2 was added gene: CUX2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: CUX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CUX2 were set to 29630738 Phenotypes for gene: CUX2 were set to Developmental epileptic encephalopathy Mode of pathogenicity for gene: CUX2 was set to Other - please provide details in the comments |
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DDG2P v0.1 | CUL7 |
Rebecca Foulger gene: CUL7 was added gene: CUL7 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CUL7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CUL7 were set to 17675530; 16142236; 19225462 Phenotypes for gene: CUL7 were set to 3-M SYNDROME 1 273750 |
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DDG2P v0.1 | CUL4B |
Rebecca Foulger gene: CUL4B was added gene: CUL4B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CUL4B was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: CUL4B were set to 17236139 Phenotypes for gene: CUL4B were set to MENTAL RETARDATION SYNDROMIC X-LINKED CABEZAS TYPE 300354 |
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DDG2P v0.1 | CUL3 |
Rebecca Foulger gene: CUL3 was added gene: CUL3 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: CUL3 was set to Publications for gene: CUL3 were set to 27824329 Phenotypes for gene: CUL3 were set to CUL3 associated autism spectrum disorder |
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DDG2P v0.1 | CTSK |
Rebecca Foulger gene: CTSK was added gene: CTSK was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CTSK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CTSK were set to 10878663; 8703060; 10491211 Phenotypes for gene: CTSK were set to PYCNODYSOSTOSIS 265800 |
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DDG2P v0.1 | CTSD |
Rebecca Foulger gene: CTSD was added gene: CTSD was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CTSD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CTSD were set to 16670177; 16685649 Phenotypes for gene: CTSD were set to NEURONAL CEROID LIPOFUSCINOSIS TYPE 10 610127 |
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DDG2P v0.1 | CTSA |
Rebecca Foulger gene: CTSA was added gene: CTSA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CTSA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CTSA were set to 8968752; 10944848; 8514852; 9603439; 1756715 Phenotypes for gene: CTSA were set to GALACTOSIALIDOSIS 256540 |
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DDG2P v0.1 | CTNS |
Rebecca Foulger Added phenotypes CYSTINOSIS LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE 219900 for gene: CTNS Publications for gene CTNS were changed from 9792862; 9537412; 11505338; 10556299; 12442267; 11565547; 10673275 to 19863563; 10556299; 10444339 |
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DDG2P v0.1 | CTNS |
Rebecca Foulger gene: CTNS was added gene: CTNS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CTNS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CTNS were set to 10625078; 11505338 Phenotypes for gene: CTNS were set to CYSTINOSIS ADULT NON-NEPHROPATHIC TYPE 219750 |
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DDG2P v0.1 | CTNND1 |
Rebecca Foulger gene: CTNND1 was added gene: CTNND1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: CTNND1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CTNND1 were set to 100000; 29348693; 28301459 Phenotypes for gene: CTNND1 were set to Blepharo-cheiro-dontic syndrome |
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DDG2P v0.1 | CTNNB1 |
Rebecca Foulger gene: CTNNB1 was added gene: CTNNB1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CTNNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CTNNB1 were set to MENTAL RETARDATION, AUTOSOMAL DOMINANT 19 615075 |
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DDG2P v0.1 | CTNNA2 |
Rebecca Foulger gene: CTNNA2 was added gene: CTNNA2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: CTNNA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CTNNA2 were set to 30013181 Phenotypes for gene: CTNNA2 were set to Disordered cortical neuronal migration |
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DDG2P v0.1 | CTDP1 |
Rebecca Foulger gene: CTDP1 was added gene: CTDP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CTDP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CTDP1 were set to 14517542 Phenotypes for gene: CTDP1 were set to CONGENITAL CATARACTS FACIAL DYSMORPHISM AND NEUROPATHY SYNDROME 604168 |
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DDG2P v0.1 | CTCF |
Rebecca Foulger gene: CTCF was added gene: CTCF was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CTCF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CTCF were set to 23746550 Phenotypes for gene: CTCF were set to INTELLECTUAL DISABILITY |
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DDG2P v0.1 | CTC1 |
Rebecca Foulger gene: CTC1 was added gene: CTC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CTC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CTC1 were set to 22267198; 22387016 Phenotypes for gene: CTC1 were set to CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 612199 |
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DDG2P v0.1 | CSTB |
Rebecca Foulger gene: CSTB was added gene: CSTB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CSTB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CSTB were set to 9012407; 15329070; 9342192; 8596935 Phenotypes for gene: CSTB were set to UNVERRICHT-LUNDBORG DISEASE 254800 |
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DDG2P v0.1 | CSTA |
Rebecca Foulger gene: CSTA was added gene: CSTA was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: CSTA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CSTA were set to 21944047 Phenotypes for gene: CSTA were set to EXFOLIATIVE ICHTHYOSIS, AUTOSOMAL RECESSIVE, ICHTHYOSIS BULLOSA OF SIEMENS-LIKE 607936 |
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DDG2P v0.1 | CSPP1 |
Rebecca Foulger gene: CSPP1 was added gene: CSPP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CSPP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CSPP1 were set to 24360808 Phenotypes for gene: CSPP1 were set to JOUBERT SYNDROME WITH OR WITHOUT JEUNE ASPHYXIATING THORACIC DYSTROPHY |
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DDG2P v0.1 | CSNK2A1 |
Rebecca Foulger gene: CSNK2A1 was added gene: CSNK2A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CSNK2A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CSNK2A1 were set to CSNK2A1 syndrome Mode of pathogenicity for gene: CSNK2A1 was set to Other - please provide details in the comments |
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DDG2P v0.1 | CSNK1G1 |
Rebecca Foulger gene: CSNK1G1 was added gene: CSNK1G1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: CSNK1G1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CSNK1G1 were set to 24463883 Phenotypes for gene: CSNK1G1 were set to EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY AND MICROCEPHALY Mode of pathogenicity for gene: CSNK1G1 was set to Other - please provide details in the comments |
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DDG2P v0.1 | CRYGD |
Rebecca Foulger gene: CRYGD was added gene: CRYGD was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: CRYGD was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CRYGD were set to 17564961; 12011157; 10915766; 10521291; 9927684 Phenotypes for gene: CRYGD were set to CATARACT CRYSTALLINE ACULEIFORM 115700 |
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DDG2P v0.1 | CRYGC |
Rebecca Foulger gene: CRYGC was added gene: CRYGC was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: CRYGC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CRYGC were set to CATARACT AUTOSOMAL DOMINANT 604219 |
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DDG2P v0.1 | CRYBB3 |
Rebecca Foulger gene: CRYBB3 was added gene: CRYBB3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CRYBB3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CRYBB3 were set to 15914629 Phenotypes for gene: CRYBB3 were set to CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 2 609741 Mode of pathogenicity for gene: CRYBB3 was set to Other - please provide details in the comments |
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DDG2P v0.1 | CRYBB2 |
Rebecca Foulger gene: CRYBB2 was added gene: CRYBB2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CRYBB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CRYBB2 were set to CATARACT, COPPOCK-LIKE 604307 |
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DDG2P v0.1 | CRYBB1 |
Rebecca Foulger gene: CRYBB1 was added gene: CRYBB1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CRYBB1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: CRYBB1 were set to 12360425; 17460281 Phenotypes for gene: CRYBB1 were set to CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 3 611544 |
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DDG2P v0.1 | CRYBA4 |
Rebecca Foulger gene: CRYBA4 was added gene: CRYBA4 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: CRYBA4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CRYBA4 were set to 16960806; 15452067 Phenotypes for gene: CRYBA4 were set to CATARACT ZONULAR TYPE 2 610425 Mode of pathogenicity for gene: CRYBA4 was set to Other - please provide details in the comments |
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DDG2P v0.1 | CRYBA1 |
Rebecca Foulger gene: CRYBA1 was added gene: CRYBA1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CRYBA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CRYBA1 were set to 14598164 Phenotypes for gene: CRYBA1 were set to CATARACT CONGENITAL ZONULAR WITH SUTURAL OPACITIES 600881 |
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DDG2P v0.1 | CRYAB |
Rebecca Foulger gene: CRYAB was added gene: CRYAB was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: CRYAB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: CRYAB were set to 11577372 Phenotypes for gene: CRYAB were set to CATARACT POSTERIOR POLAR TYPE 2 613763 |
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DDG2P v0.1 | CRYAA |
Rebecca Foulger gene: CRYAA was added gene: CRYAA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CRYAA was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: CRYAA were set to 11006246 Phenotypes for gene: CRYAA were set to CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 1 123580 |
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DDG2P v0.1 | CRX |
Rebecca Foulger gene: CRX was added gene: CRX was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CRX was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CRX were set to CRX-RELATED LEBER CONGENITAL AMAUROSIS LEBER CONGENITAL AMAUROSIS 7 613829 |
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DDG2P v0.1 | CRKL |
Rebecca Foulger gene: CRKL was added gene: CRKL was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: CRKL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CRKL were set to Bladder exstrophy plus Mode of pathogenicity for gene: CRKL was set to Other - please provide details in the comments |
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DDG2P v0.1 | CRIPT |
Rebecca Foulger gene: CRIPT was added gene: CRIPT was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: CRIPT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CRIPT were set to 24389050 Phenotypes for gene: CRIPT were set to SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES 615789 |
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DDG2P v0.1 | CRIM1 |
Rebecca Foulger gene: CRIM1 was added gene: CRIM1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: CRIM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CRIM1 were set to 25561690 Phenotypes for gene: CRIM1 were set to Colobomatous macrophthalmia with microcornea syndrome |
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DDG2P v0.1 | CRELD1 |
Rebecca Foulger gene: CRELD1 was added gene: CRELD1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: CRELD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CRELD1 were set to HETEROTAXY SYNDROME 207574 Mode of pathogenicity for gene: CRELD1 was set to Other - please provide details in the comments |
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DDG2P v0.1 | CREBBP |
Rebecca Foulger gene: CREBBP was added gene: CREBBP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CREBBP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CREBBP were set to 12114483; 12566391; 7630403; 11331617; 20684013 Phenotypes for gene: CREBBP were set to RUBINSTEIN-TAYBI SYNDROME TYPE 1 180849 |
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DDG2P v0.1 | CRBN |
Rebecca Foulger gene: CRBN was added gene: CRBN was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: CRBN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CRBN were set to 18414909 Phenotypes for gene: CRBN were set to MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 2A 607417 |
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DDG2P v0.1 | CRB2 |
Rebecca Foulger gene: CRB2 was added gene: CRB2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CRB2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CRB2 were set to 25557780 Phenotypes for gene: CRB2 were set to VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE 219730 |
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DDG2P v0.1 | CRB1 |
Rebecca Foulger gene: CRB1 was added gene: CRB1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CRB1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CRB1 were set to 10508521; 19140180; 11389483 Phenotypes for gene: CRB1 were set to RETINITIS PIGMENTOSA-12, AUTOSOMAL RECESSIVE 600105 |
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DDG2P v0.1 | CRADD |
Rebecca Foulger gene: CRADD was added gene: CRADD was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: CRADD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CRADD were set to 22279524 Phenotypes for gene: CRADD were set to MENTAL RETARDATION, NON-SYNDROMIC 614499 Mode of pathogenicity for gene: CRADD was set to Other - please provide details in the comments |
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DDG2P v0.1 | CPS1 |
Rebecca Foulger gene: CPS1 was added gene: CPS1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CPS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CPS1 were set to 8486760; 11474210; 9711878; 17310273; 19793055 Phenotypes for gene: CPS1 were set to CARBAMOYL PHOSPHATE SYNTHETASE 1 DEFICIENCY 237300 |
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DDG2P v0.1 | CPAMD8 |
Rebecca Foulger gene: CPAMD8 was added gene: CPAMD8 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: CPAMD8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CPAMD8 were set to 27839872 Phenotypes for gene: CPAMD8 were set to Anterior Segment Dysgenesis |
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DDG2P v0.1 | COX7B |
Rebecca Foulger gene: COX7B was added gene: COX7B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: COX7B was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: COX7B were set to 23122588; 9747372 Phenotypes for gene: COX7B were set to MICROPHTHALMIA WITH LINEAR SKIN LESIONS 300887 |
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DDG2P v0.1 | COX6B1 |
Rebecca Foulger gene: COX6B1 was added gene: COX6B1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: COX6B1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COX6B1 were set to MITOCHONDRIAL COMPLEX IV DEFICIENCY 220110 |
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DDG2P v0.1 | COX15 |
Rebecca Foulger gene: COX15 was added gene: COX15 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: COX15 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COX15 were set to MITOCHONDRIAL COMPLEX IV DEFICIENCY 220110 |
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DDG2P v0.1 | COX14 |
Rebecca Foulger gene: COX14 was added gene: COX14 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: COX14 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COX14 were set to MITOCHONDRIAL COMPLEX IV DEFICIENCY 220110 |
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DDG2P v0.1 | COX10 |
Rebecca Foulger gene: COX10 was added gene: COX10 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: COX10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COX10 were set to 10944442; 20818383; 15214016; 9837813; 22499348; 19107570; 12928484; 15863660; 17604671; 10647889; 15455402; 9843204; 11317352; 10746566; 17275378 Phenotypes for gene: COX10 were set to LEIGH SYNDROME 256000 Mode of pathogenicity for gene: COX10 was set to Other - please provide details in the comments |
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DDG2P v0.1 | COQ9 |
Rebecca Foulger gene: COQ9 was added gene: COQ9 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: COQ9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COQ9 were set to 19375058 Phenotypes for gene: COQ9 were set to COENZYME Q10 DEFICIENCY 607426 |
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DDG2P v0.1 | COQ8A |
Rebecca Foulger gene: COQ8A was added gene: COQ8A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: COQ8A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COQ8A were set to COENZYME Q10 DEFICIENCY 607426 |
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DDG2P v0.1 | COQ5 |
Rebecca Foulger gene: COQ5 was added gene: COQ5 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: COQ5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COQ5 were set to 21937992 Phenotypes for gene: COQ5 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION Mode of pathogenicity for gene: COQ5 was set to Other - please provide details in the comments |
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DDG2P v0.1 | COQ4 |
Rebecca Foulger gene: COQ4 was added gene: COQ4 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: COQ4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COQ4 were set to 25658047 Phenotypes for gene: COQ4 were set to COENZYME Q10 DEFICIENCY, PRIMARY, 7 616276 |
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DDG2P v0.1 | COQ2 |
Rebecca Foulger gene: COQ2 was added gene: COQ2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: COQ2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COQ2 were set to 17332895 Phenotypes for gene: COQ2 were set to COENZYME Q10 DEFICIENCY 607426 |
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DDG2P v0.1 | COMP |
Rebecca Foulger gene: COMP was added gene: COMP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: COMP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: COMP were set to ARE THE CAUSE OF PSEUDOACHONDROPLASIA 177170 Mode of pathogenicity for gene: COMP was set to Other - please provide details in the comments |
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DDG2P v0.1 | COLEC11 |
Rebecca Foulger gene: COLEC11 was added gene: COLEC11 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: COLEC11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COLEC11 were set to 8933348; 21258343; 2569826 Phenotypes for gene: COLEC11 were set to 3MC SYNDROME 2 265050 |
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DDG2P v0.1 | COLEC10 |
Rebecca Foulger gene: COLEC10 was added gene: COLEC10 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: COLEC10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COLEC10 were set to 28301481 Phenotypes for gene: COLEC10 were set to 3MC |
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DDG2P v0.1 | COL9A3 |
Rebecca Foulger gene: COL9A3 was added gene: COL9A3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: COL9A3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: COL9A3 were set to 10655510; 15551337; 10090888 Phenotypes for gene: COL9A3 were set to MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 3 600969 Mode of pathogenicity for gene: COL9A3 was set to Other - please provide details in the comments |
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DDG2P v0.1 | COL9A2 |
Rebecca Foulger gene: COL9A2 was added gene: COL9A2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: COL9A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: COL9A2 were set to 21671392 Phenotypes for gene: COL9A2 were set to STICKLER SYNDROME, TYPE V 614284 |
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DDG2P v0.1 | COL9A1 |
Rebecca Foulger gene: COL9A1 was added gene: COL9A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: COL9A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: COL9A1 were set to 16909383 Phenotypes for gene: COL9A1 were set to STICKLER SYNDROME TYPE 4 614134 |
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DDG2P v0.1 | COL6A3 |
Rebecca Foulger gene: COL6A3 was added gene: COL6A3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: COL6A3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COL6A3 were set to 26004199 Phenotypes for gene: COL6A3 were set to DYSTONIA 27 616411 |
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DDG2P v0.1 | COL6A1 |
Rebecca Foulger gene: COL6A1 was added gene: COL6A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: COL6A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: COL6A1 were set to COL6A1 associated myopathy Mode of pathogenicity for gene: COL6A1 was set to Other - please provide details in the comments |
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DDG2P v0.1 | COL4A4 |
Rebecca Foulger gene: COL4A4 was added gene: COL4A4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: COL4A4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COL4A4 were set to ALPORT SYNDROME AUTOSOMAL RECESSIVE 203780 |
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DDG2P v0.1 | COL4A3BP |
Rebecca Foulger gene: COL4A3BP was added gene: COL4A3BP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: COL4A3BP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: COL4A3BP were set to 25533962 Phenotypes for gene: COL4A3BP were set to INTELLECTUAL DISABILITY Mode of pathogenicity for gene: COL4A3BP was set to Other - please provide details in the comments |
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DDG2P v0.1 | COL4A3 |
Rebecca Foulger gene: COL4A3 was added gene: COL4A3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: COL4A3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: COL4A3 were set to 7633417; 7987396; 7987301; 9792860 Phenotypes for gene: COL4A3 were set to ALPORT SYNDROME AUTOSOMAL RECESSIVE 203780 |
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DDG2P v0.1 | COL4A2 |
Rebecca Foulger gene: COL4A2 was added gene: COL4A2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: COL4A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: COL4A2 were set to PORENCEPHALY 2 614483 Mode of pathogenicity for gene: COL4A2 was set to Other - please provide details in the comments |
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DDG2P v0.1 | COL4A1 |
Rebecca Foulger gene: COL4A1 was added gene: COL4A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: COL4A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: COL4A1 were set to PORENCEPHALY 1 175780 Mode of pathogenicity for gene: COL4A1 was set to Other - please provide details in the comments |
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DDG2P v0.1 | COL2A1 |
Rebecca Foulger gene: COL2A1 was added gene: COL2A1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: COL2A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: COL2A1 were set to 7874117; 7849719; 7981752 Phenotypes for gene: COL2A1 were set to KNIEST DYSPLASIA 156550 |
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DDG2P v0.1 | COL25A1 |
Rebecca Foulger gene: COL25A1 was added gene: COL25A1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: COL25A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COL25A1 were set to 25500261 Phenotypes for gene: COL25A1 were set to FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 5 616219 |
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DDG2P v0.1 | COL1A1 |
Rebecca Foulger gene: COL1A1 was added gene: COL1A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: COL1A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: COL1A1 were set to 3082886; 18409203; 9295084 Phenotypes for gene: COL1A1 were set to EHLERS-DANLOS SYNDROME TYPE VIIA 319158 Mode of pathogenicity for gene: COL1A1 was set to Other - please provide details in the comments |
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DDG2P v0.1 | COL18A1 |
Rebecca Foulger gene: COL18A1 was added gene: COL18A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: COL18A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COL18A1 were set to 10942434 Phenotypes for gene: COL18A1 were set to KNOBLOCH SYNDROME TYPE I 315926 |
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DDG2P v0.1 | COL13A1 |
Rebecca Foulger gene: COL13A1 was added gene: COL13A1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: COL13A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COL13A1 were set to 26626625 Phenotypes for gene: COL13A1 were set to Congenital Myasthenic Syndrome Type 19 |
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DDG2P v0.1 | COL11A2 |
Rebecca Foulger gene: COL11A2 was added gene: COL11A2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: COL11A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: COL11A2 were set to 10677296; 7859284; 16637051; 16189708 Phenotypes for gene: COL11A2 were set to AUTOSOMAL RECESSIVE OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA 215150 Mode of pathogenicity for gene: COL11A2 was set to Other - please provide details in the comments |
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DDG2P v0.1 | COL11A1 |
Rebecca Foulger gene: COL11A1 was added gene: COL11A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: COL11A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: COL11A1 were set to 21035103 Phenotypes for gene: COL11A1 were set to FIBROCHONDROGENESIS 228520 |
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DDG2P v0.1 | COL10A1 |
Rebecca Foulger gene: COL10A1 was added gene: COL10A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: COL10A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: COL10A1 were set to 10991694; 7749409; 9852679; 9468540; 9525992; 7607655; 8012364; 8304336; 9067753; 8004099; 8986632; 12554676; 8554571; 17403716 Phenotypes for gene: COL10A1 were set to SCHMID TYPE METAPHYSEAL CHONDRODYSPLASIA 156500 Mode of pathogenicity for gene: COL10A1 was set to Other - please provide details in the comments |
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DDG2P v0.1 | COG8 |
Rebecca Foulger gene: COG8 was added gene: COG8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: COG8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COG8 were set to COG8-CDG 300204 |
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DDG2P v0.1 | COG7 |
Rebecca Foulger gene: COG7 was added gene: COG7 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: COG7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COG7 were set to COG7-CDG 300171 |
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DDG2P v0.1 | COG5 |
Rebecca Foulger gene: COG5 was added gene: COG5 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: COG5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COG5 were set to COG5-CDG 319494 |
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DDG2P v0.1 | COG4 |
Rebecca Foulger gene: COG4 was added gene: COG4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: COG4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COG4 were set to COG4-CDG 319493 |
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DDG2P v0.1 | COG1 |
Rebecca Foulger gene: COG1 was added gene: COG1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: COG1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COG1 were set to COG1-CDG 300197 |
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DDG2P v0.1 | COASY |
Rebecca Foulger gene: COASY was added gene: COASY was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: COASY was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COASY were set to 24360804 Phenotypes for gene: COASY were set to NEURODEGENERATION WITH BRAIN IRON ACCUMULATION |
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DDG2P v0.1 | COA5 |
Rebecca Foulger gene: COA5 was added gene: COA5 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: COA5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COA5 were set to MITOCHONDRIAL COMPLEX IV DEFICIENCY 220110 |
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DDG2P v0.1 | CNTNAP2 |
Rebecca Foulger gene: CNTNAP2 was added gene: CNTNAP2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CNTNAP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CNTNAP2 were set to 19896112; 16571880; 11568923 Phenotypes for gene: CNTNAP2 were set to CORTICAL DYSPLASIA-FOCAL EPILEPSY SYNDROME 610042 |
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DDG2P v0.1 | CNTNAP1 |
Rebecca Foulger gene: CNTNAP1 was added gene: CNTNAP1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: CNTNAP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CNTNAP1 were set to 24319099 Phenotypes for gene: CNTNAP1 were set to LETHAL CONGENITAL CONTRACTURE SYNDROME 7 616286 |
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DDG2P v0.1 | CNOT3 |
Rebecca Foulger gene: CNOT3 was added gene: CNOT3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CNOT3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CNOT3 were set to CNOT3 syndrome |
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DDG2P v0.1 | CNKSR2 |
Rebecca Foulger gene: CNKSR2 was added gene: CNKSR2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: CNKSR2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: CNKSR2 were set to 22511892; 25644381 Phenotypes for gene: CNKSR2 were set to INTELLECTUAL DISABILITY WITH EPILEPSY |
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DDG2P v0.1 | CNKSR1 |
Rebecca Foulger gene: CNKSR1 was added gene: CNKSR1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: CNKSR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CNKSR1 were set to 21937992 Phenotypes for gene: CNKSR1 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION |
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DDG2P v0.1 | CLTC |
Rebecca Foulger gene: CLTC was added gene: CLTC was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: CLTC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CLTC were set to 26822784 Phenotypes for gene: CLTC were set to Overgrowth intellectual disability |
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DDG2P v0.1 | CLPP |
Rebecca Foulger gene: CLPP was added gene: CLPP was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: CLPP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CLPP were set to 23541340 Phenotypes for gene: CLPP were set to PERRAULT SYNDROME Mode of pathogenicity for gene: CLPP was set to Other - please provide details in the comments |
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DDG2P v0.1 | CLPB |
Rebecca Foulger gene: CLPB was added gene: CLPB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CLPB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CLPB were set to 25597510 Phenotypes for gene: CLPB were set to 3-METHYLGLUTACONIC ACIDURIA, TYPE VII, WITH CATARACTS, NEUROLOGIC INVOLVEMENT AND NEUTROPENIA 616271 |
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DDG2P v0.1 | CLP1 |
Rebecca Foulger gene: CLP1 was added gene: CLP1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: CLP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CLP1 were set to 24766809 Phenotypes for gene: CLP1 were set to PONTOCEREBELLAR HYPOPLASIA, TYPE 10 615803 Mode of pathogenicity for gene: CLP1 was set to Other - please provide details in the comments |
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DDG2P v0.1 | CLN8 |
Rebecca Foulger gene: CLN8 was added gene: CLN8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CLN8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CLN8 were set to 16570191; 19431184 Phenotypes for gene: CLN8 were set to NEURONAL CEROID LIPOFUSCINOSIS TYPE 8 600143 |
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DDG2P v0.1 | CLN6 | Rebecca Foulger Added phenotypes CEROID LIPOFUSCINOSIS, NEURONAL, KUFS TYPE, ADULT ONSET 204300 for gene: CLN6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.1 | CLN6 |
Rebecca Foulger gene: CLN6 was added gene: CLN6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CLN6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CLN6 were set to CEROID LIPOFUSCINOSIS, NEURONAL, 6 601780 |
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DDG2P v0.1 | CLN5 |
Rebecca Foulger gene: CLN5 was added gene: CLN5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CLN5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CLN5 were set to 18684116; 20157158; 15728307; 9662406 Phenotypes for gene: CLN5 were set to NEURONAL CEROID LIPOFUSCINOSIS TYPE 5 256731 |
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DDG2P v0.1 | CLN3 |
Rebecca Foulger gene: CLN3 was added gene: CLN3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CLN3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CLN3 were set to 7887420; 7553855; 19489875; 9450775 Phenotypes for gene: CLN3 were set to NEURONAL CEROID LIPOFUSCINOSIS TYPE 3 204200 |
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DDG2P v0.1 | CLMP |
Rebecca Foulger gene: CLMP was added gene: CLMP was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: CLMP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CLMP were set to 22155368 Phenotypes for gene: CLMP were set to CONGENITAL SHORT BOWEL SYNDROME 615237 |
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DDG2P v0.1 | CLIC2 |
Rebecca Foulger gene: CLIC2 was added gene: CLIC2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: CLIC2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: CLIC2 were set to 22814392 Phenotypes for gene: CLIC2 were set to Mental retardation, X-linked, syndromic 32 Mode of pathogenicity for gene: CLIC2 was set to Other - please provide details in the comments |
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DDG2P v0.1 | CLDN19 |
Rebecca Foulger gene: CLDN19 was added gene: CLDN19 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CLDN19 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CLDN19 were set to 17033971 Phenotypes for gene: CLDN19 were set to HYPOMAGNESEMIA 5, RENAL, WITH OCULAR INVOLVEMENT 248190 Mode of pathogenicity for gene: CLDN19 was set to Other - please provide details in the comments |
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DDG2P v0.1 | CLCNKB |
Rebecca Foulger gene: CLCNKB was added gene: CLCNKB was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: CLCNKB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CLCNKB were set to 15044642; 18310267 Phenotypes for gene: CLCNKB were set to BARTTER SYNDROME TYPE 4B 613090 |
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DDG2P v0.1 | CLCNKA |
Rebecca Foulger gene: CLCNKA was added gene: CLCNKA was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: CLCNKA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CLCNKA were set to BARTTER SYNDROME TYPE 4B 613090 |
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DDG2P v0.1 | CLCN7 |
Rebecca Foulger gene: CLCN7 was added gene: CLCN7 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CLCN7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CLCN7 were set to 17033731; 11207362; 11741829 Phenotypes for gene: CLCN7 were set to CLCN7-RELATED OSTEOPETROSIS 611490 |
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DDG2P v0.1 | CLCN4 |
Rebecca Foulger gene: CLCN4 was added gene: CLCN4 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: CLCN4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CLCN4 were set to 23647072; 25644381 Phenotypes for gene: CLCN4 were set to INFANTILE EPILEPTIC ENCEPHALOPATHY AND/OR INTELLECTUAL DISABILITY Mode of pathogenicity for gene: CLCN4 was set to Other - please provide details in the comments |
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DDG2P v0.1 | CKAP2L |
Rebecca Foulger gene: CKAP2L was added gene: CKAP2L was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CKAP2L was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CKAP2L were set to FILIPPI SYNDROME. SYNDACTYLY, TYPE I, WITH MICROCEPHALY AND MENTAL RETARDATION 272440 |
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DDG2P v0.1 | CIT |
Rebecca Foulger gene: CIT was added gene: CIT was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: CIT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CIT were set to 27453578 Phenotypes for gene: CIT were set to PRIMARY MICROCEPHALY 615414 Mode of pathogenicity for gene: CIT was set to Other - please provide details in the comments |
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DDG2P v0.1 | CISD2 |
Rebecca Foulger gene: CISD2 was added gene: CISD2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CISD2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CISD2 were set to WOLFRAM SYNDROME TYPE 2 604928 |
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DDG2P v0.1 | CIC |
Rebecca Foulger gene: CIC was added gene: CIC was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: CIC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CIC were set to CAPICUA, DROSOPHILA, HOMOLOG OF 612082 Mode of pathogenicity for gene: CIC was set to Other - please provide details in the comments |
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DDG2P v0.1 | CIB2 |
Rebecca Foulger gene: CIB2 was added gene: CIB2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CIB2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CIB2 were set to 23023331; 18505454 Phenotypes for gene: CIB2 were set to USHER SYNDROME TYPE 1J 614869 |
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DDG2P v0.1 | CHUK |
Rebecca Foulger gene: CHUK was added gene: CHUK was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CHUK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CHUK were set to 20961246 Phenotypes for gene: CHUK were set to COCOON SYNDROME 613630 |
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DDG2P v0.1 | CHSY1 |
Rebecca Foulger gene: CHSY1 was added gene: CHSY1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CHSY1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CHSY1 were set to 9823490; 19952732; 21129727; 21129728 Phenotypes for gene: CHSY1 were set to TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME 605282 |
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DDG2P v0.1 | CHST3 |
Rebecca Foulger gene: CHST3 was added gene: CHST3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CHST3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CHST3 were set to 19320654; 15098240; 18698629; 18513679; 112567; 20830804 Phenotypes for gene: CHST3 were set to SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS 143095 |
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DDG2P v0.1 | CHST14 |
Rebecca Foulger gene: CHST14 was added gene: CHST14 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CHST14 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CHST14 were set to EHLERS-DANLOS SYNDROME MUSCULOCONTRACTURAL TYPE 601776 |
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DDG2P v0.1 | CHRNG |
Rebecca Foulger gene: CHRNG was added gene: CHRNG was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CHRNG was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CHRNG were set to 16826520 Phenotypes for gene: CHRNG were set to MULTIPLE PTERYGIUM SYNDROME ESCOBAR VARIANT 265000 |
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DDG2P v0.1 | CHRNB2 |
Rebecca Foulger gene: CHRNB2 was added gene: CHRNB2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: CHRNB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CHRNB2 were set to CHRNB2-RELATED NOCTURNAL FRONTAL LOBE EPILEPSY, AUTOSOMAL DOMINANT 605375 Mode of pathogenicity for gene: CHRNB2 was set to Other - please provide details in the comments |
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DDG2P v0.1 | CHRNA4 |
Rebecca Foulger gene: CHRNA4 was added gene: CHRNA4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CHRNA4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CHRNA4 were set to 7647781 Phenotypes for gene: CHRNA4 were set to NOCTURNAL FRONTAL LOBE EPILEPSY TYPE 1 600513 Mode of pathogenicity for gene: CHRNA4 was set to Other - please provide details in the comments |
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DDG2P v0.1 | CHRNA2 |
Rebecca Foulger gene: CHRNA2 was added gene: CHRNA2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: CHRNA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CHRNA2 were set to CHRNA2-RELATED NOCTURNAL FRONTAL LOBE EPILEPSY, AUTOSOMAL DOMINANT 291607 Mode of pathogenicity for gene: CHRNA2 was set to Other - please provide details in the comments |
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DDG2P v0.1 | CHRNA1 |
Rebecca Foulger gene: CHRNA1 was added gene: CHRNA1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: CHRNA1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CHRNA1 were set to MULTIPLE PTERYGIUM SYNDROME LETHAL TYPE 253290 |
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DDG2P v0.1 | CHRDL1 |
Rebecca Foulger gene: CHRDL1 was added gene: CHRDL1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CHRDL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: CHRDL1 were set to 22284829 Phenotypes for gene: CHRDL1 were set to MEGALOCORNEA, X-LINKED 309300 |
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DDG2P v0.1 | CHMP1A |
Rebecca Foulger gene: CHMP1A was added gene: CHMP1A was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: CHMP1A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CHMP1A were set to 23023333 Phenotypes for gene: CHMP1A were set to PONTOCEREBELLAR HYPOPLASIA AND MICROCEPHALY 614961 |
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DDG2P v0.1 | CHM |
Rebecca Foulger gene: CHM was added gene: CHM was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CHM was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: CHM were set to 7981670; 1598901; 1302003; 8477262; 12827496; 21905166 Phenotypes for gene: CHM were set to CHOROIDEREMIA 303100 |
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DDG2P v0.1 | CHD8 |
Rebecca Foulger gene: CHD8 was added gene: CHD8 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: CHD8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CHD8 were set to 23160955 Phenotypes for gene: CHD8 were set to AUTISM 209850 |
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DDG2P v0.1 | CHD7 |
Rebecca Foulger gene: CHD7 was added gene: CHD7 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CHD7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CHD7 were set to 18834967 Phenotypes for gene: CHD7 were set to KALLMANN SYNDROME TYPE 5 612370 |
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DDG2P v0.1 | CHD4 |
Rebecca Foulger gene: CHD4 was added gene: CHD4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CHD4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CHD4 were set to 27616479; 27479907 Phenotypes for gene: CHD4 were set to Syndromic INTELLECTUAL DISABILITY with or without congenital heart disease |
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DDG2P v0.1 | CHD3 |
Rebecca Foulger gene: CHD3 was added gene: CHD3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: CHD3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CHD3 were set to Apraxia of speech Mode of pathogenicity for gene: CHD3 was set to Other - please provide details in the comments |
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DDG2P v0.1 | CHD2 |
Rebecca Foulger gene: CHD2 was added gene: CHD2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CHD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CHD2 were set to 23708187 Phenotypes for gene: CHD2 were set to EPILEPTIC ENCEPHALOPATHY |
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DDG2P v0.1 | CHAMP1 |
Rebecca Foulger gene: CHAMP1 was added gene: CHAMP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CHAMP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CHAMP1 were set to 26340335 Phenotypes for gene: CHAMP1 were set to INTELLECTUAL DISABILITY |
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DDG2P v0.1 | CFL2 |
Rebecca Foulger gene: CFL2 was added gene: CFL2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: CFL2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CFL2 were set to 17160903 Phenotypes for gene: CFL2 were set to NEMALINE MYOPATHY 7 610687 Mode of pathogenicity for gene: CFL2 was set to Other - please provide details in the comments |
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DDG2P v0.1 | CFC1 |
Rebecca Foulger gene: CFC1 was added gene: CFC1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: CFC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CFC1 were set to CFC1-RELATED CONOTRUNCAL HEART MALFORMATIONS 319372 |
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DDG2P v0.1 | CEP83 |
Rebecca Foulger gene: CEP83 was added gene: CEP83 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CEP83 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CEP83 were set to 24882706 Phenotypes for gene: CEP83 were set to INFANTILE NEPHRONOPHTHISIS AND INTELLECTUAL DISABILITY |
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DDG2P v0.1 | CEP63 |
Rebecca Foulger gene: CEP63 was added gene: CEP63 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: CEP63 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CEP63 were set to 21983783 Phenotypes for gene: CEP63 were set to SECKEL SYNDROME 6 614728 |
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DDG2P v0.1 | CEP57 |
Rebecca Foulger gene: CEP57 was added gene: CEP57 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CEP57 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CEP57 were set to 21552266; 12116237 Phenotypes for gene: CEP57 were set to MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 614114 |
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DDG2P v0.1 | CEP41 |
Rebecca Foulger gene: CEP41 was added gene: CEP41 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CEP41 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CEP41 were set to 22246503 Phenotypes for gene: CEP41 were set to JOUBERT SYNDROME 15 614464 |
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DDG2P v0.1 | CEP290 |
Rebecca Foulger gene: CEP290 was added gene: CEP290 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CEP290 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CEP290 were set to BARDET-BIEDL SYNDROME TYPE 14 209900 |
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DDG2P v0.1 | CEP152 |
Rebecca Foulger gene: CEP152 was added gene: CEP152 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CEP152 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CEP152 were set to MICROCEPHALY PRIMARY TYPE 4 604321 |
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DDG2P v0.1 | CEP135 |
Rebecca Foulger gene: CEP135 was added gene: CEP135 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: CEP135 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CEP135 were set to 22521416 Phenotypes for gene: CEP135 were set to PRIMARY MICROCEPHALY AND DISTURBED CENTROSOMAL FUNCTION 614673 |
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DDG2P v0.1 | CEP104 |
Rebecca Foulger gene: CEP104 was added gene: CEP104 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CEP104 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CEP104 were set to 26477546 Phenotypes for gene: CEP104 were set to JOUBERT SYNDROME 614615 |
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DDG2P v0.1 | CENPJ |
Rebecca Foulger gene: CENPJ was added gene: CENPJ was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CENPJ was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CENPJ were set to 15793586; 16900296; 20978018; 12843329 Phenotypes for gene: CENPJ were set to MICROCEPHALY PRIMARY TYPE 6 608393 |
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DDG2P v0.1 | CENPF |
Rebecca Foulger gene: CENPF was added gene: CENPF was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: CENPF was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CENPF were set to 27300082; 26820108; 28407396 Phenotypes for gene: CENPF were set to Stromme syndrome |
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DDG2P v0.1 | CDT1 |
Rebecca Foulger gene: CDT1 was added gene: CDT1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CDT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CDT1 were set to 11992493; 21358632 Phenotypes for gene: CDT1 were set to MEIER-GORLIN SYNDROME 4 613804 |
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DDG2P v0.1 | CDON |
Rebecca Foulger gene: CDON was added gene: CDON was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CDON was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CDON were set to 21802063 Phenotypes for gene: CDON were set to HOLOPROSENCEPHALY 11 614226 Mode of pathogenicity for gene: CDON was set to Other - please provide details in the comments |
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DDG2P v0.1 | CDKN1C |
Rebecca Foulger gene: CDKN1C was added gene: CDKN1C was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CDKN1C was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Publications for gene: CDKN1C were set to 8841187; 9341892; 14997421; 20503313 Phenotypes for gene: CDKN1C were set to BECKWITH-WIEDEMANN SYNDROME 130650 |
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DDG2P v0.1 | CDKL5 |
Rebecca Foulger gene: CDKL5 was added gene: CDKL5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CDKL5 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: CDKL5 were set to 19793311; 15689447; 17993579; 16611748; 15492925; 15499549; 18809835; 16813600; 19396824; 19241098 Phenotypes for gene: CDKL5 were set to EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 2 300672 |
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DDG2P v0.1 | CDK5RAP2 |
Rebecca Foulger gene: CDK5RAP2 was added gene: CDK5RAP2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: CDK5RAP2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CDK5RAP2 were set to PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY 279936 |
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DDG2P v0.1 | CDK16 |
Rebecca Foulger gene: CDK16 was added gene: CDK16 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: CDK16 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: CDK16 were set to 25644381 Phenotypes for gene: CDK16 were set to INTELLECTUAL DISABILITY |
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DDG2P v0.1 | CDK13 |
Rebecca Foulger gene: CDK13 was added gene: CDK13 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CDK13 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CDK13 were set to 27479907 Phenotypes for gene: CDK13 were set to Syndromic INTELLECTUAL DISABILITY with or without congenital heart disease Mode of pathogenicity for gene: CDK13 was set to Other - please provide details in the comments |
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DDG2P v0.1 | CDK10 |
Rebecca Foulger gene: CDK10 was added gene: CDK10 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: CDK10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CDK10 were set to 29130579; 28886341 Phenotypes for gene: CDK10 were set to Severe Growth Retardation, Spine Malformations, and Developmental Delays |
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DDG2P v0.1 | CDH3 |
Rebecca Foulger gene: CDH3 was added gene: CDH3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CDH3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CDH3 were set to 15805154 Phenotypes for gene: CDH3 were set to EEM SYNDROME 280238 |
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DDG2P v0.1 | CDH23 |
Rebecca Foulger gene: CDH23 was added gene: CDH23 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CDH23 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CDH23 were set to 12075507; 15829536; 11090341; 17850630 Phenotypes for gene: CDH23 were set to DEAFNESS AUTOSOMAL RECESSIVE TYPE 12 601386 |
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DDG2P v0.1 | CDH15 |
Rebecca Foulger gene: CDH15 was added gene: CDH15 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: CDH15 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CDH15 were set to 19012874; 26506440 Phenotypes for gene: CDH15 were set to MENTAL RETARDATION AUTOSOMAL DOMINANT TYPE 3 612580 |
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DDG2P v0.1 | CDH1 |
Rebecca Foulger gene: CDH1 was added gene: CDH1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CDH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CDH1 were set to 100000 Phenotypes for gene: CDH1 were set to Blepharo-cheiro-dontic syndrome Mode of pathogenicity for gene: CDH1 was set to Other - please provide details in the comments |
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DDG2P v0.1 | CDC6 |
Rebecca Foulger gene: CDC6 was added gene: CDC6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CDC6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CDC6 were set to 11477602 Phenotypes for gene: CDC6 were set to MEIER-GORLIN SYNDROME 5 613805 |
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DDG2P v0.1 | CDC45 |
Rebecca Foulger gene: CDC45 was added gene: CDC45 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CDC45 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CDC45 were set to 27374770 Phenotypes for gene: CDC45 were set to Meier-Gorlin Syndrome and Craniosynostosis |
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DDG2P v0.1 | CD96 |
Rebecca Foulger gene: CD96 was added gene: CD96 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: CD96 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CD96 were set to 17847009 Phenotypes for gene: CD96 were set to C SYNDROME 211750 |
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DDG2P v0.1 | CD151 |
Rebecca Foulger gene: CD151 was added gene: CD151 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: CD151 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CD151 were set to 15265795 Phenotypes for gene: CD151 were set to NEPHROPATHY WITH PRETIBIAL EPIDERMOLYSIS BULLOSA AND DEAFNESS 609057 |
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DDG2P v0.1 | CCNO |
Rebecca Foulger gene: CCNO was added gene: CCNO was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CCNO was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CCNO were set to 24747639 Phenotypes for gene: CCNO were set to CILIARY DYSKINESIA, PRIMARY, 29 615872 |
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DDG2P v0.1 | CCND2 |
Rebecca Foulger gene: CCND2 was added gene: CCND2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CCND2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CCND2 were set to MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 603387 Mode of pathogenicity for gene: CCND2 was set to Other - please provide details in the comments |
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DDG2P v0.1 | CCNA2 |
Rebecca Foulger gene: CCNA2 was added gene: CCNA2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: CCNA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CCNA2 were set to 21937992 Phenotypes for gene: CCNA2 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION |
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DDG2P v0.1 | CCDC88C |
Rebecca Foulger gene: CCDC88C was added gene: CCDC88C was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: CCDC88C was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CCDC88C were set to 23042809 Phenotypes for gene: CCDC88C were set to HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 236600 |
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DDG2P v0.1 | CCDC88A |
Rebecca Foulger gene: CCDC88A was added gene: CCDC88A was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: CCDC88A was set to Publications for gene: CCDC88A were set to 26917597 Phenotypes for gene: CCDC88A were set to PEHO-like syndrome |
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DDG2P v0.1 | CCDC8 |
Rebecca Foulger gene: CCDC8 was added gene: CCDC8 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: CCDC8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CCDC8 were set to 21737058 Phenotypes for gene: CCDC8 were set to THREE M SYNDROME 3 614205 |
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DDG2P v0.1 | CCDC78 |
Rebecca Foulger gene: CCDC78 was added gene: CCDC78 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: CCDC78 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CCDC78 were set to 22818856 Phenotypes for gene: CCDC78 were set to CONGENITAL MYOPATHY WITH PROMINENT INTERNAL NUCLEI AND ATYPICAL CORES 614807 |
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DDG2P v0.1 | CCDC65 |
Rebecca Foulger gene: CCDC65 was added gene: CCDC65 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CCDC65 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CCDC65 were set to PRIMARY CILIARY DYSKINESIA |
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DDG2P v0.1 | CCDC40 |
Rebecca Foulger gene: CCDC40 was added gene: CCDC40 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CCDC40 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CCDC40 were set to 21131974 Phenotypes for gene: CCDC40 were set to CILIARY DYSKINESIA, PRIMARY, 15 613808 |
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DDG2P v0.1 | CCDC39 |
Rebecca Foulger gene: CCDC39 was added gene: CCDC39 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CCDC39 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CCDC39 were set to 21131972 Phenotypes for gene: CCDC39 were set to CILIARY DYSKINESIA, PRIMARY, 14 613807 |
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DDG2P v0.1 | CCDC22 |
Rebecca Foulger gene: CCDC22 was added gene: CCDC22 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: CCDC22 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: CCDC22 were set to SYNDROMIC X-LINKED INTELLECTUAL DISABILITY Mode of pathogenicity for gene: CCDC22 was set to Other - please provide details in the comments |
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DDG2P v0.1 | CCDC151 |
Rebecca Foulger gene: CCDC151 was added gene: CCDC151 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: CCDC151 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CCDC151 were set to 25192045 Phenotypes for gene: CCDC151 were set to PRIMARY CILLARY DYSKINEASIA 616037 |
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DDG2P v0.1 | CCDC115 |
Rebecca Foulger gene: CCDC115 was added gene: CCDC115 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CCDC115 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CCDC115 were set to 26833332 Phenotypes for gene: CCDC115 were set to Disorder of Golgi homeostasis |
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DDG2P v0.1 | CCDC114 |
Rebecca Foulger gene: CCDC114 was added gene: CCDC114 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CCDC114 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CCDC114 were set to 23261303; 23261302 Phenotypes for gene: CCDC114 were set to PRIMARY CILIARY DYSKINESIA |
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DDG2P v0.1 | CCDC103 |
Rebecca Foulger gene: CCDC103 was added gene: CCDC103 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CCDC103 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CCDC103 were set to 22581229 Phenotypes for gene: CCDC103 were set to PRIMARY CILIARY DYSKINESIA |
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DDG2P v0.1 | CCBE1 |
Rebecca Foulger gene: CCBE1 was added gene: CCBE1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CCBE1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CCBE1 were set to 19935664 Phenotypes for gene: CCBE1 were set to HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 235510 |
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DDG2P v0.1 | CC2D2A |
Rebecca Foulger gene: CC2D2A was added gene: CC2D2A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CC2D2A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CC2D2A were set to 18513680; 20671153 Phenotypes for gene: CC2D2A were set to MECKEL SYNDROME, TYPE 6 612284 |
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DDG2P v0.1 | CC2D1A |
Rebecca Foulger gene: CC2D1A was added gene: CC2D1A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CC2D1A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CC2D1A were set to 16033914 Phenotypes for gene: CC2D1A were set to MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 3 608443 |
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DDG2P v0.1 | CBS |
Rebecca Foulger gene: CBS was added gene: CBS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CBS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CBS were set to 9361025; 7506602; 8755636; 10780316; 1301198; 16479318; 8990018; 14635102; 8353501; 8528202 Phenotypes for gene: CBS were set to CYSTATHIONINE BETA-SYNTHASE DEFICIENCY 236200 |
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DDG2P v0.1 | CBL |
Rebecca Foulger gene: CBL was added gene: CBL was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CBL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CBL were set to 20694012; 20619386; 20543203 Phenotypes for gene: CBL were set to NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MEYLOMONOCYTIC LEUKEMIA 613563 Mode of pathogenicity for gene: CBL was set to Other - please provide details in the comments |
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DDG2P v0.1 | CAV1 |
Rebecca Foulger gene: CAV1 was added gene: CAV1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: CAV1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CAV1 were set to CONGENITAL GENERALIZED LIPODYSTROPHY TYPE 3 612526 |
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DDG2P v0.1 | CASP2 |
Rebecca Foulger gene: CASP2 was added gene: CASP2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: CASP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CASP2 were set to 21937992 Phenotypes for gene: CASP2 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION |
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DDG2P v0.1 | CASK |
Rebecca Foulger gene: CASK was added gene: CASK was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CASK was set to X linked: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: CASK were set to 21954287; 19165920 Phenotypes for gene: CASK were set to MENTAL RETARDATION X-LINKED CASK-RELATED 300749 |
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DDG2P v0.1 | CARS2 |
Rebecca Foulger gene: CARS2 was added gene: CARS2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: CARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CARS2 were set to 25787132; 25361775 Phenotypes for gene: CARS2 were set to Epileptic encephalopathy with complex movement disorder and regression |
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DDG2P v0.1 | CAPRIN1 |
Rebecca Foulger gene: CAPRIN1 was added gene: CAPRIN1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: CAPRIN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CAPRIN1 were set to 23849776 Phenotypes for gene: CAPRIN1 were set to AUTISM OR INTELLECTUAL DISABILITY |
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DDG2P v0.1 | CAPN10 |
Rebecca Foulger gene: CAPN10 was added gene: CAPN10 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: CAPN10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CAPN10 were set to 21937992 Phenotypes for gene: CAPN10 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION |
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DDG2P v0.1 | CAMTA1 |
Rebecca Foulger gene: CAMTA1 was added gene: CAMTA1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: CAMTA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CAMTA1 were set to 22693284 Phenotypes for gene: CAMTA1 were set to CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION 614756 |
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DDG2P v0.1 | CAMK2B |
Rebecca Foulger gene: CAMK2B was added gene: CAMK2B was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: CAMK2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CAMK2B were set to 29100089; 29560374 Phenotypes for gene: CAMK2B were set to INTELLECTUAL DISABILITY |
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DDG2P v0.1 | CAMK2A |
Rebecca Foulger gene: CAMK2A was added gene: CAMK2A was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: CAMK2A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CAMK2A were set to 29100089; 29560374 Phenotypes for gene: CAMK2A were set to INTELLECTUAL DISABILITY |
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DDG2P v0.1 | CAD |
Rebecca Foulger gene: CAD was added gene: CAD was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CAD was set to Phenotypes for gene: CAD were set to Uridine-responsive epileptic encephalopathy |
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DDG2P v0.1 | CACNB4 |
Rebecca Foulger gene: CACNB4 was added gene: CACNB4 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: CACNB4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CACNB4 were set to JUVENILE MYOCLONIC EPILEPSY 611136 |
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DDG2P v0.1 | CACNA1H |
Rebecca Foulger gene: CACNA1H was added gene: CACNA1H was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: CACNA1H was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CACNA1H were set to EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6 611942 Mode of pathogenicity for gene: CACNA1H was set to Other - please provide details in the comments |
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DDG2P v0.1 | CACNA1G |
Rebecca Foulger gene: CACNA1G was added gene: CACNA1G was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: CACNA1G was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CACNA1G were set to 21937992 Phenotypes for gene: CACNA1G were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION |
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DDG2P v0.1 | CACNA1D |
Rebecca Foulger gene: CACNA1D was added gene: CACNA1D was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: CACNA1D was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: CACNA1D were set to 21131953 Phenotypes for gene: CACNA1D were set to SINOATRIAL NODE DYSFUNCTION AND DEAFNESS 614896 |
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DDG2P v0.1 | CACNA1C |
Rebecca Foulger gene: CACNA1C was added gene: CACNA1C was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CACNA1C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CACNA1C were set to 15454078 Phenotypes for gene: CACNA1C were set to TIMOTHY SYNDROME 601005 Mode of pathogenicity for gene: CACNA1C was set to Other - please provide details in the comments |
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DDG2P v0.1 | CACNA1A |
Rebecca Foulger gene: CACNA1A was added gene: CACNA1A was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: CACNA1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CACNA1A were set to 27476654; 28927557; 28742085; 23934111; 29366381 Phenotypes for gene: CACNA1A were set to EPILEPTIC ENCEPHALOPATHY Mode of pathogenicity for gene: CACNA1A was set to Other - please provide details in the comments |
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DDG2P v0.1 | CA8 |
Rebecca Foulger gene: CA8 was added gene: CA8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CA8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CA8 were set to 19461874; 21937992 Phenotypes for gene: CA8 were set to CEREBELLAR ATAXIA MENTAL RETARDATION AND DYSEQUILIBRIUM SYNDROME TYPE 3 613227 |
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DDG2P v0.1 | CA5A |
Rebecca Foulger gene: CA5A was added gene: CA5A was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: CA5A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CA5A were set to 24530203 Phenotypes for gene: CA5A were set to HYPERAMMONEMIA DUE TO CARBONIC ANHYDRASE VA DEFICIENCY 615751 |
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DDG2P v0.1 | CA2 |
Rebecca Foulger gene: CA2 was added gene: CA2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CA2 were set to 12566520; 8127074; 5041390; 1301935 Phenotypes for gene: CA2 were set to OSTEOPETROSIS AUTOSOMAL RECESSIVE TYPE 3 259730 |
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DDG2P v0.1 | C8orf37 |
Rebecca Foulger gene: C8orf37 was added gene: C8orf37 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: C8orf37 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C8orf37 were set to 22177090 Phenotypes for gene: C8orf37 were set to CONE-ROD DYSTROPHY 16 614500 |
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DDG2P v0.1 | C5orf42 |
Rebecca Foulger gene: C5orf42 was added gene: C5orf42 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: C5orf42 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: C5orf42 were set to JOUBERT SYNDROME 614615 |
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DDG2P v0.1 | C4orf26 |
Rebecca Foulger gene: C4orf26 was added gene: C4orf26 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: C4orf26 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C4orf26 were set to 22901946 Phenotypes for gene: C4orf26 were set to AMYELOGENESIS 614832 |
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DDG2P v0.1 | C2orf71 |
Rebecca Foulger gene: C2orf71 was added gene: C2orf71 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: C2orf71 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: C2orf71 were set to RETINITIS PIGMENTOSA 54 613428 |
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DDG2P v0.1 | C2CD3 |
Rebecca Foulger gene: C2CD3 was added gene: C2CD3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: C2CD3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C2CD3 were set to 24997988 Phenotypes for gene: C2CD3 were set to OROFACIODIGITAL SYNDROME XIV 615948 |
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DDG2P v0.1 | C21orf59 |
Rebecca Foulger gene: C21orf59 was added gene: C21orf59 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: C21orf59 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: C21orf59 were set to PRIMARY CILIARY DYSKINESIA |
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DDG2P v0.1 | C21orf2 |
Rebecca Foulger gene: C21orf2 was added gene: C21orf2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: C21orf2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C21orf2 were set to 26974433 Phenotypes for gene: C21orf2 were set to Axial Spondylometaphyseal Dysplasia |
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DDG2P v0.1 | C1QBP |
Rebecca Foulger gene: C1QBP was added gene: C1QBP was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: C1QBP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C1QBP were set to 28942965 Phenotypes for gene: C1QBP were set to Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies Mode of pathogenicity for gene: C1QBP was set to Other - please provide details in the comments |
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DDG2P v0.1 | C12orf65 |
Rebecca Foulger gene: C12orf65 was added gene: C12orf65 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: C12orf65 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: C12orf65 were set to COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 613559 |
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DDG2P v0.1 | C12orf57 |
Rebecca Foulger gene: C12orf57 was added gene: C12orf57 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: C12orf57 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C12orf57 were set to 23453666 Phenotypes for gene: C12orf57 were set to COLOBOMA, HYPOPLASTIC CORPUS CALLOSUM AND INTELLECTUAL DISABILITY 218340; TEMTAMY SYNDROME Mode of pathogenicity for gene: C12orf57 was set to Other - please provide details in the comments |
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DDG2P v0.1 | BUB1B |
Rebecca Foulger gene: BUB1B was added gene: BUB1B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: BUB1B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BUB1B were set to 9916837; 21190457; 16411201; 11169558; 15475955 Phenotypes for gene: BUB1B were set to MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 257300 |
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DDG2P v0.1 | BTD |
Rebecca Foulger gene: BTD was added gene: BTD was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: BTD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BTD were set to 9099842; 10801053; 9705240; 9375914; 7550325; 8894703; 9158148 Phenotypes for gene: BTD were set to BIOTINIDASE DEFICIENCY 253260 |
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DDG2P v0.1 | BSND |
Rebecca Foulger gene: BSND was added gene: BSND was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: BSND was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BSND were set to 19646679; 12574213; 11687798 Phenotypes for gene: BSND were set to BARTTER SYNDROME TYPE 4A 602522 |
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DDG2P v0.1 | BRWD3 |
Rebecca Foulger gene: BRWD3 was added gene: BRWD3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: BRWD3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: BRWD3 were set to 17668385 Phenotypes for gene: BRWD3 were set to MENTAL RETARDATION X-LINKED TYPE 93 300659 |
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DDG2P v0.1 | BRPF1 |
Rebecca Foulger gene: BRPF1 was added gene: BRPF1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: BRPF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: BRPF1 were set to 27939639; 27939640 Phenotypes for gene: BRPF1 were set to BRPF1 associated syndromic intellectual disability with ptosis |
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DDG2P v0.1 | BRIP1 |
Rebecca Foulger gene: BRIP1 was added gene: BRIP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: BRIP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BRIP1 were set to 16116424 Phenotypes for gene: BRIP1 were set to FANCONI ANEMIA, COMPLEMENTATION GROUP J 609054 |
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DDG2P v0.1 | BRCA2 |
Rebecca Foulger gene: BRCA2 was added gene: BRCA2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: BRCA2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BRCA2 were set to FANCONI ANEMIA COMPLEMENTATION GROUP D TYPE 1 605724 |
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DDG2P v0.1 | BRCA1 |
Rebecca Foulger gene: BRCA1 was added gene: BRCA1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: BRCA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BRCA1 were set to 12624153 Phenotypes for gene: BRCA1 were set to INTELLECTUAL DISABILITY |
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DDG2P v0.1 | BRAT1 |
Rebecca Foulger gene: BRAT1 was added gene: BRAT1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: BRAT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BRAT1 were set to 22279524 Phenotypes for gene: BRAT1 were set to LETHAL NEONATAL RIGIDITY AND SEIZURE SYNDROME 614498 |
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DDG2P v0.1 | BRAF |
Rebecca Foulger gene: BRAF was added gene: BRAF was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: BRAF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: BRAF were set to 19206169 Phenotypes for gene: BRAF were set to NOONAN SYNDROME TYPE 7 613706 Mode of pathogenicity for gene: BRAF was set to Other - please provide details in the comments |
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DDG2P v0.1 | BPTF |
Rebecca Foulger gene: BPTF was added gene: BPTF was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: BPTF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: BPTF were set to 28942966 Phenotypes for gene: BPTF were set to Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features |
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DDG2P v0.1 | BPIFB6 |
Rebecca Foulger gene: BPIFB6 was added gene: BPIFB6 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: BPIFB6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: BPIFB6 were set to BACTERICIDAL PERMEABILITY-INCREASING PROTEIN-LIKE 3 614110 Mode of pathogenicity for gene: BPIFB6 was set to Other - please provide details in the comments |
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DDG2P v0.1 | BOLA3 |
Rebecca Foulger gene: BOLA3 was added gene: BOLA3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: BOLA3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BOLA3 were set to 11156534 Phenotypes for gene: BOLA3 were set to MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 614299 |
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DDG2P v0.1 | BMPR1B |
Rebecca Foulger gene: BMPR1B was added gene: BMPR1B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: BMPR1B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BMPR1B were set to 14523231; 18203755 Phenotypes for gene: BMPR1B were set to BRACHYDACTYLY TYPE A2 112600 |
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DDG2P v0.1 | BMPER |
Rebecca Foulger gene: BMPER was added gene: BMPER was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: BMPER was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BMPER were set to 20869035 Phenotypes for gene: BMPER were set to DIAPHANOSPONDYLODYSOSTOSIS 608022 |
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DDG2P v0.1 | BMP4 |
Rebecca Foulger gene: BMP4 was added gene: BMP4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: BMP4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: BMP4 were set to 19249007 Phenotypes for gene: BMP4 were set to OROFACIAL CLEFT 11 600625 |
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DDG2P v0.1 | BMP2 |
Rebecca Foulger gene: BMP2 was added gene: BMP2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: BMP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: BMP2 were set to 100000 Phenotypes for gene: BMP2 were set to Short stature, palatal anomalies, congenital heart disease, and skeletal malformations |
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DDG2P v0.1 | BLOC1S6 |
Rebecca Foulger gene: BLOC1S6 was added gene: BLOC1S6 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: BLOC1S6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BLOC1S6 were set to 21665000 Phenotypes for gene: BLOC1S6 were set to HERMANSKY-PUDLAK SYNDROME 9 614171 |
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DDG2P v0.1 | BLM |
Rebecca Foulger gene: BLM was added gene: BLM was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: BLM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BLM were set to BLOOM SYNDROME 210900 |
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DDG2P v0.1 | BIN1 |
Rebecca Foulger gene: BIN1 was added gene: BIN1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: BIN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BIN1 were set to 20142620; 17676042 Phenotypes for gene: BIN1 were set to CENTRONUCLEAR MYOPATHY 2 255200 |
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DDG2P v0.1 | BICD2 |
Rebecca Foulger gene: BICD2 was added gene: BICD2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: BICD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: BICD2 were set to 23664120 Phenotypes for gene: BICD2 were set to PROXIMAL SPINAL MUSCULAR ATROPHY WITH AUTOSOMAL-DOMINANT INHERITANCE Mode of pathogenicity for gene: BICD2 was set to Other - please provide details in the comments |
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DDG2P v0.1 | BHLHA9 |
Rebecca Foulger gene: BHLHA9 was added gene: BHLHA9 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: BHLHA9 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: BHLHA9 were set to 25466284 Phenotypes for gene: BHLHA9 were set to MESOAXIAL SYNOSTOTIC SYNDACTYLY WITH PHALANGEAL REDUCTION, MALIK-PERCIN TYPE 69432 Mode of pathogenicity for gene: BHLHA9 was set to Other - please provide details in the comments |
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DDG2P v0.1 | BGN |
Rebecca Foulger gene: BGN was added gene: BGN was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: BGN was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: BGN were set to 27236923 Phenotypes for gene: BGN were set to X-Linked Spondyloepimetaphyseal Dysplasia |
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DDG2P v0.1 | BFSP2 |
Rebecca Foulger gene: BFSP2 was added gene: BFSP2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: BFSP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: BFSP2 were set to 10634598; 10729115 Phenotypes for gene: BFSP2 were set to CATARACT AUTOSOMAL DOMINANT BFSP2-RELATED 611597 Mode of pathogenicity for gene: BFSP2 was set to Other - please provide details in the comments |
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DDG2P v0.1 | BCS1L |
Rebecca Foulger gene: BCS1L was added gene: BCS1L was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: BCS1L was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BCS1L were set to 12215968 Phenotypes for gene: BCS1L were set to GRACILE SYNDROME 603358 |
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DDG2P v0.1 | BCOR |
Rebecca Foulger gene: BCOR was added gene: BCOR was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: BCOR was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: BCOR were set to 15957158; 19367324; 15004558; 15770227 Phenotypes for gene: BCOR were set to MICROPHTHALMIA SYNDROMIC TYPE 2 300166 |
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DDG2P v0.1 | BCL11A |
Rebecca Foulger gene: BCL11A was added gene: BCL11A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: BCL11A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: BCL11A were set to 27453576; 25533962 Phenotypes for gene: BCL11A were set to INTELLECTUAL DISABILITY |
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DDG2P v0.1 | BCKDHB |
Rebecca Foulger gene: BCKDHB was added gene: BCKDHB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: BCKDHB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BCKDHB were set to MAPLE SYRUP URINE DISEASE 248600 |
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DDG2P v0.1 | BCKDHA |
Rebecca Foulger gene: BCKDHA was added gene: BCKDHA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: BCKDHA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BCKDHA were set to 18378174; 7883996; 8430702; 2010537; 11509994; 2022752; 14508502; 1990841; 14742428; 1847055; 9621512; 2703538; 9582350 Phenotypes for gene: BCKDHA were set to MAPLE SYRUP URINE DISEASE 248600 |
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DDG2P v0.1 | BCAP31 |
Rebecca Foulger gene: BCAP31 was added gene: BCAP31 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: BCAP31 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: BCAP31 were set to 24011989 Phenotypes for gene: BCAP31 were set to DEAFNESS, DYSTONIA, AND CENTRAL HYPOMYELINATION WITH DISORGANIZATION OF THE GOLGI APPARATUS |
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DDG2P v0.1 | BBS9 |
Rebecca Foulger gene: BBS9 was added gene: BBS9 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: BBS9 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BBS9 were set to BARDET-BIEDL SYNDROME TYPE 9 209900 |
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DDG2P v0.1 | BBS7 |
Rebecca Foulger gene: BBS7 was added gene: BBS7 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: BBS7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BBS7 were set to BARDET-BIEDL SYNDROME TYPE 7 209900 |
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DDG2P v0.1 | BBS5 |
Rebecca Foulger gene: BBS5 was added gene: BBS5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: BBS5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BBS5 were set to BARDET-BIEDL SYNDROME TYPE 5 209900 |
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DDG2P v0.1 | BBS4 |
Rebecca Foulger gene: BBS4 was added gene: BBS4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: BBS4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BBS4 were set to BARDET-BIEDL SYNDROME TYPE 4 209900 |
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DDG2P v0.1 | BBS2 |
Rebecca Foulger gene: BBS2 was added gene: BBS2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: BBS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BBS2 were set to BARDET-BIEDL SYNDROME TYPE 2 209900 |
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DDG2P v0.1 | BBS12 |
Rebecca Foulger gene: BBS12 was added gene: BBS12 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: BBS12 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BBS12 were set to BARDET-BIEDL SYNDROME TYPE 12 209900 |
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DDG2P v0.1 | BBS10 |
Rebecca Foulger gene: BBS10 was added gene: BBS10 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: BBS10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BBS10 were set to BARDET-BIEDL SYNDROME TYPE 10 209900 |
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DDG2P v0.1 | BBS1 |
Rebecca Foulger gene: BBS1 was added gene: BBS1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: BBS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BBS1 were set to BARDET-BIEDL SYNDROME TYPE 1 209900 |
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DDG2P v0.1 | BANF1 |
Rebecca Foulger gene: BANF1 was added gene: BANF1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: BANF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BANF1 were set to 21549337 Phenotypes for gene: BANF1 were set to NESTOR-GUILLERMO PROGERIA SYNDROME 614008 Mode of pathogenicity for gene: BANF1 was set to Other - please provide details in the comments |
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DDG2P v0.1 | B9D1 |
Rebecca Foulger gene: B9D1 was added gene: B9D1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: B9D1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: B9D1 were set to 21493627 Phenotypes for gene: B9D1 were set to MECKEL SYNDROME 9 614209 |
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DDG2P v0.1 | B4GALT7 |
Rebecca Foulger gene: B4GALT7 was added gene: B4GALT7 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: B4GALT7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: B4GALT7 were set to 3631078; 15211654 Phenotypes for gene: B4GALT7 were set to EHLERS-DANLOS SYNDROME PROGEROID TYPE 130070 |
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DDG2P v0.1 | B3GALT6 |
Rebecca Foulger gene: B3GALT6 was added gene: B3GALT6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: B3GALT6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: B3GALT6 were set to EHLERS-DANLOS SYNDROME 130070 |
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DDG2P v0.1 | B3GALNT2 |
Rebecca Foulger gene: B3GALNT2 was added gene: B3GALNT2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: B3GALNT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: B3GALNT2 were set to 23453667 Phenotypes for gene: B3GALNT2 were set to MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11 615181 |
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DDG2P v0.1 | AXIN1 |
Rebecca Foulger gene: AXIN1 was added gene: AXIN1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: AXIN1 was set to Phenotypes for gene: AXIN1 were set to CAUDAL DUPLICATION ANOMALY 607864 Mode of pathogenicity for gene: AXIN1 was set to Other - please provide details in the comments |
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DDG2P v0.1 | AUTS2 |
Rebecca Foulger gene: AUTS2 was added gene: AUTS2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: AUTS2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: AUTS2 were set to 23332918 Phenotypes for gene: AUTS2 were set to SYNDROMIC INTELLECTUAL DISABILITY 612100 |
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DDG2P v0.1 | AUH |
Rebecca Foulger gene: AUH was added gene: AUH was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: AUH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AUH were set to 20855850; 15033206; 12434311; 10070612; 6181239 Phenotypes for gene: AUH were set to 3-METHYLGLUTACONIC ACIDURIA TYPE 1 250950 |
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DDG2P v0.1 | ATRX |
Rebecca Foulger gene: ATRX was added gene: ATRX was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ATRX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: ATRX were set to 6682021; 6711605; 16222662; 10632111; 9043863; 10751095 Phenotypes for gene: ATRX were set to MENTAL RETARDATION SYNDROMIC X-LINKED WITH HYPOTONIC FACIES SYNDROME TYPE 1 309580 |
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DDG2P v0.1 | ATR |
Rebecca Foulger gene: ATR was added gene: ATR was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: ATR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ATR were set to SECKEL SYNDROME TYPE 1 210600 |
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DDG2P v0.1 | ATP8B1 |
Rebecca Foulger gene: ATP8B1 was added gene: ATP8B1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ATP8B1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP8B1 were set to 5762004; 11093741; 15317749; 9500542 Phenotypes for gene: ATP8B1 were set to ATP8B1-RELATED INTRAHEPATIC CHOLESTASIS 211600 |
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DDG2P v0.1 | ATP8A2 |
Rebecca Foulger gene: ATP8A2 was added gene: ATP8A2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: ATP8A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP8A2 were set to 22892528 Phenotypes for gene: ATP8A2 were set to CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 4 615268 Mode of pathogenicity for gene: ATP8A2 was set to Other - please provide details in the comments |
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DDG2P v0.1 | ATP7A |
Rebecca Foulger gene: ATP7A was added gene: ATP7A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ATP7A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: ATP7A were set to 17108763; 8149649; 11431706; 10739752; 9246006 Phenotypes for gene: ATP7A were set to OCCIPITAL HORN SYNDROME 304150 |
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DDG2P v0.1 | ATP6V1B2 |
Rebecca Foulger gene: ATP6V1B2 was added gene: ATP6V1B2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: ATP6V1B2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ATP6V1B2 were set to 25915598 Phenotypes for gene: ATP6V1B2 were set to ZIMMERMANN-LABAND SYNDROME Mode of pathogenicity for gene: ATP6V1B2 was set to Other - please provide details in the comments |
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DDG2P v0.1 | ATP6V1B1 |
Rebecca Foulger gene: ATP6V1B1 was added gene: ATP6V1B1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ATP6V1B1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP6V1B1 were set to 12566520; 18798332; 9916796 Phenotypes for gene: ATP6V1B1 were set to DISTAL RENAL TUBULAR ACIDOSIS WITH DEAFNESS 267300 |
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DDG2P v0.1 | ATP6AP2 |
Rebecca Foulger gene: ATP6AP2 was added gene: ATP6AP2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: ATP6AP2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ATP6AP2 were set to MENTAL RETARDATION X-LINKED WITH EPILEPSY 300423 Mode of pathogenicity for gene: ATP6AP2 was set to Other - please provide details in the comments |
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DDG2P v0.1 | ATP1A3 |
Rebecca Foulger gene: ATP1A3 was added gene: ATP1A3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ATP1A3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ATP1A3 were set to RAPID-ONSET DYSTONIA-PARKINSONISM 128235 Mode of pathogenicity for gene: ATP1A3 was set to Other - please provide details in the comments |
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DDG2P v0.1 | ATP13A2 |
Rebecca Foulger gene: ATP13A2 was added gene: ATP13A2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ATP13A2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ATP13A2 were set to PARKINSON DISEASE 9 606693 |
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DDG2P v0.1 | ATOH7 |
Rebecca Foulger gene: ATOH7 was added gene: ATOH7 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: ATOH7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ATOH7 were set to RETINAL NON-ATTACHMENT CONGENITAL NON-SYNDROMIC 221900 Mode of pathogenicity for gene: ATOH7 was set to Other - please provide details in the comments |
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DDG2P v0.1 | ATM |
Rebecca Foulger gene: ATM was added gene: ATM was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ATM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATM were set to 9443866; 11826028; 8968760; 9450874; 9600235; 8755918; 22345219; 7792600; 9887333; 8808599; 9781027; 2491181; 11889466; 9521587 Phenotypes for gene: ATM were set to ATAXIA-TELANGIECTASIA 208900 |
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DDG2P v0.1 | ATIC |
Rebecca Foulger gene: ATIC was added gene: ATIC was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ATIC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATIC were set to 15114530 Phenotypes for gene: ATIC were set to AICA-RIBOSURIA 608688 |
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DDG2P v0.1 | ATAD3A |
Rebecca Foulger gene: ATAD3A was added gene: ATAD3A was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: ATAD3A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: ATAD3A were set to 27640307 Phenotypes for gene: ATAD3A were set to ATAD3A disorder - global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy |
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DDG2P v0.1 | ASXL3 |
Rebecca Foulger gene: ASXL3 was added gene: ASXL3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: ASXL3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ASXL3 were set to 23383720 Phenotypes for gene: ASXL3 were set to BAINBRIDGE-ROPERS SYNDROME 615485 |
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DDG2P v0.1 | ASXL2 |
Rebecca Foulger gene: ASXL2 was added gene: ASXL2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: ASXL2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ASXL2 were set to 28061364 Phenotypes for gene: ASXL2 were set to Developmental delay, macrocephaly, and dysmorphic features |
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DDG2P v0.1 | ASXL1 |
Rebecca Foulger gene: ASXL1 was added gene: ASXL1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ASXL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ASXL1 were set to 21706002; 22419483 Phenotypes for gene: ASXL1 were set to BOHRING-OPITZ SYNDROME 605039 |
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DDG2P v0.1 | ASS1 |
Rebecca Foulger gene: ASS1 was added gene: ASS1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ASS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ASS1 were set to CITRULLINEMIA TYPE I 615700 |
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DDG2P v0.1 | ASPM |
Rebecca Foulger gene: ASPM was added gene: ASPM was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ASPM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ASPM were set to 12355089 Phenotypes for gene: ASPM were set to PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY 279936 |
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DDG2P v0.1 | ASPH |
Rebecca Foulger gene: ASPH was added gene: ASPH was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: ASPH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ASPH were set to 24768550 Phenotypes for gene: ASPH were set to FACIAL DYSMORPHISM, LENS DISLOCATION, ANTERIOR SEGMENT ABNORMALITIES, AND SPONTANEOUS FILTERING BLEBS |
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DDG2P v0.1 | ASPA |
Rebecca Foulger gene: ASPA was added gene: ASPA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ASPA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ASPA were set to 8252036; 8023850; 8088831; 7599639; 16437572; 7668285; 10909858; 12638939; 10564886; 8659549 Phenotypes for gene: ASPA were set to CANAVAN DISEASE 271900 |
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DDG2P v0.1 | ASL |
Rebecca Foulger gene: ASL was added gene: ASL was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ASL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ASL were set to 2263616; 12408190; 12384776 Phenotypes for gene: ASL were set to ARGININOSUCCINATE LYASE DEFICIENCY 207900 |
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DDG2P v0.1 | ASH1L |
Rebecca Foulger gene: ASH1L was added gene: ASH1L was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: ASH1L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ASH1L were set to 25961944; 28394464; 29753921; 29276005 Phenotypes for gene: ASH1L were set to INTELLECTUAL DISABILITY Mode of pathogenicity for gene: ASH1L was set to Other - please provide details in the comments |
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DDG2P v0.1 | ASCL1 |
Rebecca Foulger gene: ASCL1 was added gene: ASCL1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: ASCL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ASCL1 were set to 21937992 Phenotypes for gene: ASCL1 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION Mode of pathogenicity for gene: ASCL1 was set to Other - please provide details in the comments |
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DDG2P v0.1 | ASCC3 |
Rebecca Foulger gene: ASCC3 was added gene: ASCC3 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: ASCC3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ASCC3 were set to 21937992 Phenotypes for gene: ASCC3 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION Mode of pathogenicity for gene: ASCC3 was set to Other - please provide details in the comments |
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DDG2P v0.1 | ASCC1 |
Rebecca Foulger gene: ASCC1 was added gene: ASCC1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: ASCC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ASCC1 were set to 26924529 Phenotypes for gene: ASCC1 were set to Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures |
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DDG2P v0.1 | ASAH1 |
Rebecca Foulger gene: ASAH1 was added gene: ASAH1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ASAH1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ASAH1 were set to 10610716; 16951918; 11241842; 8955159 Phenotypes for gene: ASAH1 were set to FARBER LIPOGRANULOMATOSIS 228000 |
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DDG2P v0.1 | ARX |
Rebecca Foulger gene: ARX was added gene: ARX was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ARX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: ARX were set to 21204226; 11971879 Phenotypes for gene: ARX were set to MENTAL RETARDATION X-LINKED ARX-RELATED 300419 |
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DDG2P v0.1 | ARSE |
Rebecca Foulger gene: ARSE was added gene: ARSE was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ARSE was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: ARSE were set to 9409863; 7720070; 12567415 Phenotypes for gene: ARSE were set to CHONDRODYSPLASIA PUNCTATA 1, X-LINKED 302950 |
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DDG2P v0.1 | ARSB |
Rebecca Foulger gene: ARSB was added gene: ARSB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ARSB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARSB were set to 1718978; 1301949; 17643332; 8723688; 1550123; 8651289 Phenotypes for gene: ARSB were set to MUCOPOLYSACCHARIDOSIS TYPE 6 253200 |
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DDG2P v0.1 | ARSA |
Rebecca Foulger gene: ARSA was added gene: ARSA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ARSA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARSA were set to 8101083; 7866401; 7909527; 1670590; 1673291; 7906588; 8104633; 11941485; 11456299; 1678251; 12788103; 1676699; 1353340; 11061266; 7902317; 9600244; 8101038; 7858169; 7815433; 1684088; 7981715; 7833949; 2574462 Phenotypes for gene: ARSA were set to ARYLSULFATASE A DEFICIENCY 250100 |
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DDG2P v0.1 | ARMC9 |
Rebecca Foulger gene: ARMC9 was added gene: ARMC9 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ARMC9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARMC9 were set to 28625504 Phenotypes for gene: ARMC9 were set to Joubert syndrome 30 |
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DDG2P v0.1 | ARMC4 |
Rebecca Foulger gene: ARMC4 was added gene: ARMC4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ARMC4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARMC4 were set to 23849778 Phenotypes for gene: ARMC4 were set to CILIARY DYSKINESIA, PRIMARY, 23 615451 |
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DDG2P v0.1 | ARL6 |
Rebecca Foulger gene: ARL6 was added gene: ARL6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ARL6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARL6 were set to 20618352; 11381270; 16582908; 18327255; 11567139; 20805367; 21937992; 17160889; 7987310; 16380913; 12837689; 10973238; 16606853; 18203199; 7711739; 8298649; 14520415; 15314642; 15137946; 22353939; 10973251; 9714014; 12118255; 12524598; 20671153; 12567324; 12016587; 16308660 Phenotypes for gene: ARL6 were set to BARDET-BIEDL SYNDROME TYPE 3 209900 |
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DDG2P v0.1 | ARL14EP |
Rebecca Foulger gene: ARL14EP was added gene: ARL14EP was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: ARL14EP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARL14EP were set to 21937992 Phenotypes for gene: ARL14EP were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION Mode of pathogenicity for gene: ARL14EP was set to Other - please provide details in the comments |
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DDG2P v0.1 | ARID2 |
Rebecca Foulger gene: ARID2 was added gene: ARID2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: ARID2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ARID2 were set to 28124119 Phenotypes for gene: ARID2 were set to ARID2-Coffin-Siris like disorder |
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DDG2P v0.1 | ARID1B |
Rebecca Foulger gene: ARID1B was added gene: ARID1B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ARID1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ARID1B were set to COFFIN SIRIS SYNDROME |
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DDG2P v0.1 | ARID1A |
Rebecca Foulger gene: ARID1A was added gene: ARID1A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ARID1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ARID1A were set to COFFIN-SIRIS SYNDROME 135900 |
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DDG2P v0.1 | ARHGEF9 |
Rebecca Foulger gene: ARHGEF9 was added gene: ARHGEF9 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: ARHGEF9 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: ARHGEF9 were set to 21633362 Phenotypes for gene: ARHGEF9 were set to EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 8 300607 |
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DDG2P v0.1 | ARHGEF6 |
Rebecca Foulger gene: ARHGEF6 was added gene: ARHGEF6 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: ARHGEF6 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ARHGEF6 were set to MENTAL RETARDATION X-LINKED TYPE 46 300436 |
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DDG2P v0.1 | ARHGAP31 |
Rebecca Foulger gene: ARHGAP31 was added gene: ARHGAP31 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: ARHGAP31 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ARHGAP31 were set to 16451141; 474617 Phenotypes for gene: ARHGAP31 were set to ADAMS-OLIVER SYNDROME 1 100300 |
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DDG2P v0.1 | ARG1 |
Rebecca Foulger gene: ARG1 was added gene: ARG1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ARG1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARG1 were set to 10502833; 2365823; 1463019; 7649538; 1598908 Phenotypes for gene: ARG1 were set to ARGININEMIA 207800 |
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DDG2P v0.1 | ARFGEF2 |
Rebecca Foulger gene: ARFGEF2 was added gene: ARFGEF2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: ARFGEF2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARFGEF2 were set to 14647276 Phenotypes for gene: ARFGEF2 were set to PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY 608097 |
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DDG2P v0.1 | ARCN1 |
Rebecca Foulger gene: ARCN1 was added gene: ARCN1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: ARCN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ARCN1 were set to 27476655 Phenotypes for gene: ARCN1 were set to Microcephalic dwarfism |
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DDG2P v0.1 | AR |
Rebecca Foulger gene: AR was added gene: AR was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: AR was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: AR were set to SPINAL AND BULBAR MUSCULAR ATROPHY 313200 |
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DDG2P v0.1 | APTX |
Rebecca Foulger gene: APTX was added gene: APTX was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: APTX was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: APTX were set to 12196655; 11586300; 11586299; 15365154; 15852392 Phenotypes for gene: APTX were set to ATAXIA WITH OCULOMOTOR APRAXIA 1 208920 |
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DDG2P v0.1 | APOPT1 |
Rebecca Foulger gene: APOPT1 was added gene: APOPT1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: APOPT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: APOPT1 were set to MITOCHONDRIAL COMPLEX IV DEFICIENCY 220110 |
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DDG2P v0.1 | AP4S1 |
Rebecca Foulger gene: AP4S1 was added gene: AP4S1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: AP4S1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AP4S1 were set to 21620353 Phenotypes for gene: AP4S1 were set to CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 6 614067 |
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DDG2P v0.1 | AP4M1 |
Rebecca Foulger gene: AP4M1 was added gene: AP4M1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: AP4M1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AP4M1 were set to 19559397 Phenotypes for gene: AP4M1 were set to CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 3 612936 |
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DDG2P v0.1 | AP4E1 |
Rebecca Foulger gene: AP4E1 was added gene: AP4E1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: AP4E1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AP4E1 were set to 20972249 Phenotypes for gene: AP4E1 were set to CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 4 613744 |
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DDG2P v0.1 | AP4B1 |
Rebecca Foulger gene: AP4B1 was added gene: AP4B1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: AP4B1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AP4B1 were set to 21620353; 22290197 Phenotypes for gene: AP4B1 were set to CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 5 614066 |
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DDG2P v0.1 | AP3B2 |
Rebecca Foulger gene: AP3B2 was added gene: AP3B2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: AP3B2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AP3B2 were set to 27889060 Phenotypes for gene: AP3B2 were set to Epileptic Encephalopathy with Optic Atrophy |
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DDG2P v0.1 | AP1S2 |
Rebecca Foulger gene: AP1S2 was added gene: AP1S2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: AP1S2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: AP1S2 were set to 17617514; 5054319; 10398241; 17186471; 12599187 Phenotypes for gene: AP1S2 were set to MENTAL RETARDATION X-LINKED TYPE 59 300630 |
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DDG2P v0.1 | ANTXR1 |
Rebecca Foulger gene: ANTXR1 was added gene: ANTXR1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ANTXR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ANTXR1 were set to 23602711 Phenotypes for gene: ANTXR1 were set to GAPO SYNDROME |
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DDG2P v0.1 | ANO5 |
Rebecca Foulger gene: ANO5 was added gene: ANO5 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: ANO5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: ANO5 were set to MIYOSHI MUSCULAR DYSTROPHY TYPE 3 613319 |
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DDG2P v0.1 | ANKRD26 |
Rebecca Foulger gene: ANKRD26 was added gene: ANKRD26 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: ANKRD26 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ANKRD26 were set to 21211618; 10521306 Phenotypes for gene: ANKRD26 were set to THROMBOCYTOPENIA 2 188000 Mode of pathogenicity for gene: ANKRD26 was set to Other - please provide details in the comments |
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DDG2P v0.1 | ANKRD11 |
Rebecca Foulger gene: ANKRD11 was added gene: ANKRD11 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ANKRD11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ANKRD11 were set to 15523620; 15378538; 21782149 Phenotypes for gene: ANKRD11 were set to KBG SYNDROME 148050 |
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DDG2P v0.1 | ANKH |
Rebecca Foulger gene: ANKH was added gene: ANKH was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ANKH was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ANKH were set to 11326272; 14322785; 20358596; 2712793 Phenotypes for gene: ANKH were set to CRANIOMETAPHYSEAL DYSPLASIA JACKSON TYPE 123000 |
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DDG2P v0.1 | AMT |
Rebecca Foulger gene: AMT was added gene: AMT was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: AMT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AMT were set to GLYCINE ENCEPHALOPATHY 605899 |
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DDG2P v0.1 | AMPD2 |
Rebecca Foulger gene: AMPD2 was added gene: AMPD2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: AMPD2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AMPD2 were set to 23911318 Phenotypes for gene: AMPD2 were set to PONTOCEREBELLAR HYPOPLASIA |
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DDG2P v0.1 | AMER1 |
Rebecca Foulger gene: AMER1 was added gene: AMER1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: AMER1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: AMER1 were set to OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS 300373 |
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DDG2P v0.1 | ALX4 |
Rebecca Foulger gene: ALX4 was added gene: ALX4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ALX4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: ALX4 were set to FRONTONASAL DYSPLASIA 2 605420 |
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DDG2P v0.1 | ALX3 |
Rebecca Foulger gene: ALX3 was added gene: ALX3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ALX3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALX3 were set to 19409524 Phenotypes for gene: ALX3 were set to FRONTONASAL DYSPLASIA TYPE 1 136760 |
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DDG2P v0.1 | ALX1 |
Rebecca Foulger gene: ALX1 was added gene: ALX1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ALX1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALX1 were set to 20451171; 27324866 Phenotypes for gene: ALX1 were set to FRONTONASAL DYSPLASIA TYPE 3 136760 |
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DDG2P v0.1 | ALS2 |
Rebecca Foulger gene: ALS2 was added gene: ALS2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ALS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALS2 were set to 11586297 Phenotypes for gene: ALS2 were set to ALS2-RELATED DISORDERS 240656 |
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DDG2P v0.1 | ALPL |
Rebecca Foulger gene: ALPL was added gene: ALPL was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ALPL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALPL were set to 3174660 Phenotypes for gene: ALPL were set to HYPOPHOSPHATASIA 241500 Mode of pathogenicity for gene: ALPL was set to Other - please provide details in the comments |
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DDG2P v0.1 | ALMS1 |
Rebecca Foulger gene: ALMS1 was added gene: ALMS1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ALMS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALMS1 were set to 11941370; 11941369; 21877133; 9063741; 17594715; 17850632 Phenotypes for gene: ALMS1 were set to ALSTROM SYNDROME 203800 |
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DDG2P v0.1 | ALG9 |
Rebecca Foulger gene: ALG9 was added gene: ALG9 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: ALG9 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALG9 were set to ALG9-CDG 300153 |
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DDG2P v0.1 | ALG8 |
Rebecca Foulger gene: ALG8 was added gene: ALG8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ALG8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALG8 were set to ALG8-CDG 237145 |
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DDG2P v0.1 | ALG6 |
Rebecca Foulger gene: ALG6 was added gene: ALG6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ALG6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALG6 were set to ALG6-CDG 237124 |
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DDG2P v0.1 | ALG3 |
Rebecca Foulger gene: ALG3 was added gene: ALG3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ALG3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALG3 were set to ALG3-CDG 237128 |
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DDG2P v0.1 | ALG2 |
Rebecca Foulger gene: ALG2 was added gene: ALG2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: ALG2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALG2 were set to ALG2-CDG 237149 |
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DDG2P v0.1 | ALG13 |
Rebecca Foulger gene: ALG13 was added gene: ALG13 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: ALG13 was set to X linked: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: ALG13 were set to 23934111 Phenotypes for gene: ALG13 were set to EPILEPTIC ENCEPHALOPATHIES. Mode of pathogenicity for gene: ALG13 was set to Other - please provide details in the comments |
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DDG2P v0.1 | ALG12 |
Rebecca Foulger gene: ALG12 was added gene: ALG12 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ALG12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALG12 were set to 12217961; 11983712; 12093361 Phenotypes for gene: ALG12 were set to CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1G 607143 |
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DDG2P v0.1 | ALG11 |
Rebecca Foulger gene: ALG11 was added gene: ALG11 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: ALG11 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALG11 were set to ALG11-CDG 319490 |
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DDG2P v0.1 | ALG1 |
Rebecca Foulger gene: ALG1 was added gene: ALG1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ALG1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALG1 were set to ALG1-CDG 300141 |
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DDG2P v0.1 | ALDOB |
Rebecca Foulger gene: ALDOB was added gene: ALDOB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ALDOB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALDOB were set to 3383242 Phenotypes for gene: ALDOB were set to HEREDITARY FRUCTOSE INTOLERANCE 229600 |
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DDG2P v0.1 | ALDOA |
Rebecca Foulger gene: ALDOA was added gene: ALDOA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ALDOA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALDOA were set to 8598869; 2825199 Phenotypes for gene: ALDOA were set to GLYCOGEN STORAGE DISEASE XII 611881 Mode of pathogenicity for gene: ALDOA was set to Other - please provide details in the comments |
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DDG2P v0.1 | ALDH7A1 |
Rebecca Foulger gene: ALDH7A1 was added gene: ALDH7A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ALDH7A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALDH7A1 were set to 16491085; 17721876; 17068770 Phenotypes for gene: ALDH7A1 were set to PYRIDOXINE-DEPENDENT EPILEPSY 266100 |
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DDG2P v0.1 | ALDH5A1 |
Rebecca Foulger gene: ALDH5A1 was added gene: ALDH5A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ALDH5A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALDH5A1 were set to 14635103; 9683595; 16542398 Phenotypes for gene: ALDH5A1 were set to SUCCINATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY 271980 |
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DDG2P v0.1 | ALDH4A1 |
Rebecca Foulger gene: ALDH4A1 was added gene: ALDH4A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ALDH4A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALDH4A1 were set to 9700195 Phenotypes for gene: ALDH4A1 were set to HYPERPROLINEMIA TYPE 2 239510 |
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DDG2P v0.1 | ALDH3A2 |
Rebecca Foulger gene: ALDH3A2 was added gene: ALDH3A2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ALDH3A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALDH3A2 were set to 9250352; 9254849; 8528251; 10792573; 10577908 Phenotypes for gene: ALDH3A2 were set to SJOEGREN-LARSSON SYNDROME 270200 |
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DDG2P v0.1 | ALDH1A3 |
Rebecca Foulger gene: ALDH1A3 was added gene: ALDH1A3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ALDH1A3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALDH1A3 were set to 23312594 Phenotypes for gene: ALDH1A3 were set to ANOPHTHALMIA/MICROPHTHALMIA |
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DDG2P v0.1 | ALDH18A1 |
Rebecca Foulger gene: ALDH18A1 was added gene: ALDH18A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ALDH18A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: ALDH18A1 were set to SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT 601162 |
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DDG2P v0.1 | ALAD |
Rebecca Foulger gene: ALAD was added gene: ALAD was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ALAD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALAD were set to 2063868 Phenotypes for gene: ALAD were set to ACUTE HEPATIC PORPHYRIA 612740 Mode of pathogenicity for gene: ALAD was set to Other - please provide details in the comments |
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DDG2P v0.1 | AKT3 |
Rebecca Foulger gene: AKT3 was added gene: AKT3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: AKT3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: AKT3 were set to 22500628; 22729224 Phenotypes for gene: AKT3 were set to HEMIMEGALENCEPHALY AKT3 603387 Mode of pathogenicity for gene: AKT3 was set to Other - please provide details in the comments |
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DDG2P v0.1 | AKT1 |
Rebecca Foulger gene: AKT1 was added gene: AKT1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: AKT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: AKT1 were set to PROTEUS SYNDROME 176920 Mode of pathogenicity for gene: AKT1 was set to Other - please provide details in the comments |
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DDG2P v0.1 | AKR1D1 |
Rebecca Foulger gene: AKR1D1 was added gene: AKR1D1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: AKR1D1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AKR1D1 were set to 12970144 Phenotypes for gene: AKR1D1 were set to BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2 235555 |
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DDG2P v0.1 | AK2 |
Rebecca Foulger gene: AK2 was added gene: AK2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: AK2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AK2 were set to 19043417; 19043416 Phenotypes for gene: AK2 were set to RETICULAR DYSGENESIS 267500 |
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DDG2P v0.1 | AIRE |
Rebecca Foulger gene: AIRE was added gene: AIRE was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: AIRE was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AIRE were set to 9398839 Phenotypes for gene: AIRE were set to AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME TYPE 1 240300 |
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DDG2P v0.1 | AIPL1 |
Rebecca Foulger gene: AIPL1 was added gene: AIPL1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: AIPL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AIPL1 were set to 10615133; 10873396 Phenotypes for gene: AIPL1 were set to LEBER CONGENITAL AMAUROSIS 4 604393 |
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DDG2P v0.1 | AIMP1 |
Rebecca Foulger gene: AIMP1 was added gene: AIMP1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: AIMP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AIMP1 were set to 21092922 Phenotypes for gene: AIMP1 were set to LEUKODYSTROPHY, HYPOMYELINATING, 3 260600 |
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DDG2P v0.1 | AIFM1 |
Rebecca Foulger gene: AIFM1 was added gene: AIFM1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: AIFM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: AIFM1 were set to 23217327 Phenotypes for gene: AIFM1 were set to COWCHOCK SYNDROME Mode of pathogenicity for gene: AIFM1 was set to Other - please provide details in the comments |
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DDG2P v0.1 | AHI1 |
Rebecca Foulger gene: AHI1 was added gene: AHI1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: AHI1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AHI1 were set to 16453322 Phenotypes for gene: AHI1 were set to JOUBERT SYNDROME 614615 |
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DDG2P v0.1 | AHDC1 |
Rebecca Foulger gene: AHDC1 was added gene: AHDC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: AHDC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: AHDC1 were set to 24791903 Phenotypes for gene: AHDC1 were set to XIA-GIBBS SYNDROME 615829 |
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DDG2P v0.1 | AGXT |
Rebecca Foulger gene: AGXT was added gene: AGXT was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: AGXT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AGXT were set to 8101040 Phenotypes for gene: AGXT were set to HYPEROXALURIA, PRIMARY, TYPE 1 259900 |
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DDG2P v0.1 | AGTR2 |
Rebecca Foulger gene: AGTR2 was added gene: AGTR2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: AGTR2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: AGTR2 were set to X-LINKED MENTAL RETARDATION 88 290909 |
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DDG2P v0.1 | AGPS |
Rebecca Foulger gene: AGPS was added gene: AGPS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: AGPS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AGPS were set to 7807941; 11152660 Phenotypes for gene: AGPS were set to RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 3 600121 Mode of pathogenicity for gene: AGPS was set to Other - please provide details in the comments |
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DDG2P v0.1 | AGL |
Rebecca Foulger gene: AGL was added gene: AGL was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: AGL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AGL were set to 11378828; 9490286; 8755644; 10571954; 8990006; 19834502; 9412782; 10655153; 10925384; 8702417 Phenotypes for gene: AGL were set to GLYCOGEN STORAGE DISEASE TYPE III 232400 |
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DDG2P v0.1 | AGK |
Rebecca Foulger gene: AGK was added gene: AGK was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: AGK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AGK were set to 15168109; 22284826; 22277967; 3560758 Phenotypes for gene: AGK were set to SENGERS SYNDROME 212350 |
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DDG2P v0.1 | AGA |
Rebecca Foulger gene: AGA was added gene: AGA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: AGA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AGA were set to 6883788; 1765378; 8776587 Phenotypes for gene: AGA were set to ASPARTYLGLUCOSAMINURIA 208400 |
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DDG2P v0.1 | AFG3L2 |
Rebecca Foulger gene: AFG3L2 was added gene: AFG3L2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: AFG3L2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: AFG3L2 were set to 20208537 Phenotypes for gene: AFG3L2 were set to SPINOCEREBELLAR ATAXIA 28 610246 |
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DDG2P v0.1 | AFF4 |
Rebecca Foulger gene: AFF4 was added gene: AFF4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: AFF4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: AFF4 were set to 25730767 Phenotypes for gene: AFF4 were set to CORNELIA DE LANGE-LIKE SYNDROME Mode of pathogenicity for gene: AFF4 was set to Other - please provide details in the comments |
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DDG2P v0.1 | AFF3 |
Rebecca Foulger gene: AFF3 was added gene: AFF3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: AFF3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: AFF3 were set to 100000 Phenotypes for gene: AFF3 were set to Skeletal dysplasia with severe neurological disease Mode of pathogenicity for gene: AFF3 was set to Other - please provide details in the comments |
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DDG2P v0.1 | AFF2 |
Rebecca Foulger gene: AFF2 was added gene: AFF2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: AFF2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: AFF2 were set to 21739600; 8334699 Phenotypes for gene: AFF2 were set to FRAGILE X-E MENTAL RETARDATION SYNDROME 309548 |
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DDG2P v0.1 | ADSL |
Rebecca Foulger gene: ADSL was added gene: ADSL was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ADSL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADSL were set to 10090474; 18830228; 6150139; 12016589; 9545543 Phenotypes for gene: ADSL were set to ADENYLOSUCCINASE DEFICIENCY 103050 Mode of pathogenicity for gene: ADSL was set to Other - please provide details in the comments |
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DDG2P v0.1 | ADRA2B |
Rebecca Foulger gene: ADRA2B was added gene: ADRA2B was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: ADRA2B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADRA2B were set to 21937992 Phenotypes for gene: ADRA2B were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION Mode of pathogenicity for gene: ADRA2B was set to Other - please provide details in the comments |
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DDG2P v0.1 | ADNP |
Rebecca Foulger gene: ADNP was added gene: ADNP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ADNP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ADNP were set to 24531329 Phenotypes for gene: ADNP were set to MENTAL RETARDATION, AUTOSOMAL DOMINANT, 28 615873 |
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DDG2P v0.1 | ADK |
Rebecca Foulger gene: ADK was added gene: ADK was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: ADK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADK were set to 21937992 Phenotypes for gene: ADK were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION Mode of pathogenicity for gene: ADK was set to Other - please provide details in the comments |
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DDG2P v0.1 | ADGRG6 |
Rebecca Foulger gene: ADGRG6 was added gene: ADGRG6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ADGRG6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADGRG6 were set to 26004201 Phenotypes for gene: ADGRG6 were set to LETHAL CONGENITAL CONTRACTURE SYNDROME 9 616503 |
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DDG2P v0.1 | ADGRG1 |
Rebecca Foulger gene: ADGRG1 was added gene: ADGRG1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ADGRG1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADGRG1 were set to 15044805 Phenotypes for gene: ADGRG1 were set to POLYMICROGYRIA 606854 |
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DDG2P v0.1 | ADAR |
Rebecca Foulger gene: ADAR was added gene: ADAR was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ADAR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: ADAR were set to 12916015; 16935814; 17478391; 16817193 Phenotypes for gene: ADAR were set to DYSCHROMATOSIS SYMMETRICA HEREDITARIA 1 127400 |
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DDG2P v0.1 | ADAMTS18 |
Rebecca Foulger gene: ADAMTS18 was added gene: ADAMTS18 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: ADAMTS18 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADAMTS18 were set to 21862674 Phenotypes for gene: ADAMTS18 were set to KNOBLOCH SYNDROME 2 608454 Mode of pathogenicity for gene: ADAMTS18 was set to Other - please provide details in the comments |
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DDG2P v0.1 | ADA |
Rebecca Foulger gene: ADA was added gene: ADA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ADA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADA were set to 11807006; 8227344; 2783588; 1680289; 21228398; 980079; 8614422; 3182793; 3684597; 3475710; 8031011; 2166947; 9361033; 46025; 3839802; 9225964; 8673127 Phenotypes for gene: ADA were set to ADENOSINE DEAMINASE DEFICIENCY 102700 |
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DDG2P v0.1 | ACY1 |
Rebecca Foulger gene: ACY1 was added gene: ACY1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ACY1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACY1 were set to 17562838; 16274666; 16465618 Phenotypes for gene: ACY1 were set to AMINOACYLASE-1 DEFICIENCY 609924 |
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DDG2P v0.1 | ACVR2B |
Rebecca Foulger gene: ACVR2B was added gene: ACVR2B was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: ACVR2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ACVR2B were set to HETEROTAXY SYNDROME 207574 Mode of pathogenicity for gene: ACVR2B was set to Other - please provide details in the comments |
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DDG2P v0.1 | ACVR1 |
Rebecca Foulger gene: ACVR1 was added gene: ACVR1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: ACVR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ACVR1 were set to 19330033; 16642017; 19085907; 18203193; 18830232 Phenotypes for gene: ACVR1 were set to FIBRODYSPLASIA OSSIFICANS PROGRESSIVA 135100 Mode of pathogenicity for gene: ACVR1 was set to Other - please provide details in the comments |
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DDG2P v0.1 | ACTL6B |
Rebecca Foulger gene: ACTL6B was added gene: ACTL6B was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: ACTL6B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ACTL6B were set to 28867141 Phenotypes for gene: ACTL6B were set to Unspecified Neurodevelopmental Disorder Mode of pathogenicity for gene: ACTL6B was set to Other - please provide details in the comments |
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DDG2P v0.1 | ACTG1 |
Rebecca Foulger gene: ACTG1 was added gene: ACTG1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ACTG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ACTG1 were set to BARAITSER-WINTER SYNDROME Mode of pathogenicity for gene: ACTG1 was set to Other - please provide details in the comments |
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DDG2P v0.1 | ACTB |
Rebecca Foulger gene: ACTB was added gene: ACTB was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: ACTB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ACTB were set to 22366783 Phenotypes for gene: ACTB were set to BARAITSER-WINTER SYNDROME |
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DDG2P v0.1 | ACTA2 |
Rebecca Foulger gene: ACTA2 was added gene: ACTA2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ACTA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ACTA2 were set to MOYAMOYA DISEASE 5 614042 Mode of pathogenicity for gene: ACTA2 was set to Other - please provide details in the comments |
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DDG2P v0.1 | ACTA1 |
Rebecca Foulger gene: ACTA1 was added gene: ACTA1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: ACTA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACTA1 were set to 10508519 Phenotypes for gene: ACTA1 were set to NEMALINE MYOPATHY 3 Mode of pathogenicity for gene: ACTA1 was set to Other - please provide details in the comments |
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DDG2P v0.1 | ACSL4 |
Rebecca Foulger gene: ACSL4 was added gene: ACSL4 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: ACSL4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ACSL4 were set to ALPORT SYNDROME WITH MENTAL RETARDATION MIDFACE HYPOPLASIA AND ELLIPTOCYTOSIS 300194 |
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DDG2P v0.1 | ACP5 |
Rebecca Foulger gene: ACP5 was added gene: ACP5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ACP5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACP5 were set to 12786759; 21217752; 21217755; 16470600; 13524805 Phenotypes for gene: ACP5 were set to SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION 607944 |
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DDG2P v0.1 | ACOX1 |
Rebecca Foulger gene: ACOX1 was added gene: ACOX1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ACOX1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACOX1 were set to 17458872; 8279468; 11815777; 2894756; 18536048 Phenotypes for gene: ACOX1 were set to ADRENOLEUKODYSTROPHY PSEUDONEONATAL 264470 |
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DDG2P v0.1 | ACO2 |
Rebecca Foulger gene: ACO2 was added gene: ACO2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: ACO2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACO2 were set to 22405087 Phenotypes for gene: ACO2 were set to INFANTILE CEREBELLAR-RETINAL DEGENERATION 614559 |
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DDG2P v0.1 | ACBD6 |
Rebecca Foulger gene: ACBD6 was added gene: ACBD6 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: ACBD6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACBD6 were set to 21937992 Phenotypes for gene: ACBD6 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION |
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DDG2P v0.1 | ACAT1 |
Rebecca Foulger gene: ACAT1 was added gene: ACAT1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ACAT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACAT1 were set to 1979337; 11914035; 7907600; 9700610; 4690360; 1715688; 1627655; 1346617 Phenotypes for gene: ACAT1 were set to ALPHA-METHYLACETOACETIC ACIDURIA 203750 |
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DDG2P v0.1 | ACAN |
Rebecca Foulger gene: ACAN was added gene: ACAN was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ACAN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: ACAN were set to SPONDYLOEPIPHYSEAL DYSPLASIA TYPE KIMBERLEY 608361 |
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DDG2P v0.1 | ACADVL |
Rebecca Foulger gene: ACADVL was added gene: ACADVL was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ACADVL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACADVL were set to 10790204; 9709714; 7479827; 7668252; 9546340; 11158518; 8554073 Phenotypes for gene: ACADVL were set to VERY LONG CHAIN ACYL-COENZYME A DEHYDROGENASE DEFICIENCY 201475 |
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DDG2P v0.1 | ACADS |
Rebecca Foulger gene: ACADS was added gene: ACADS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ACADS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACADS were set to 2808706 Phenotypes for gene: ACADS were set to SHORT CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY 201470 Mode of pathogenicity for gene: ACADS was set to Other - please provide details in the comments |
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DDG2P v0.1 | ACADM |
Rebecca Foulger gene: ACADM was added gene: ACADM was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ACADM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACADM were set to 11409868; 1972503; 7603790; 11349232; 9158144; 1684086; 7929823; 6434827 Phenotypes for gene: ACADM were set to MEDIUM CHAIN ACYL-COENZYME A DEHYDROGENASE DEFICIENCY 201450 |
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DDG2P v0.1 | ACAD9 |
Rebecca Foulger gene: ACAD9 was added gene: ACAD9 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ACAD9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACAD9 were set to 21057504; 17564966 Phenotypes for gene: ACAD9 were set to ACYL-COA DEHYDROGENASE FAMILY MEMBER TYPE 9 DEFICIENCY 611126 |
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DDG2P v0.1 | ABL1 |
Rebecca Foulger gene: ABL1 was added gene: ABL1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: ABL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ABL1 were set to 28288113 Phenotypes for gene: ABL1 were set to Congenital heart defects and skeletal malformations Mode of pathogenicity for gene: ABL1 was set to Other - please provide details in the comments |
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DDG2P v0.1 | ABHD5 |
Rebecca Foulger gene: ABHD5 was added gene: ABHD5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ABHD5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ABHD5 were set to 11590543 Phenotypes for gene: ABHD5 were set to CHANARIN-DORFMAN SYNDROME 275630 |
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DDG2P v0.1 | ABCD4 |
Rebecca Foulger gene: ABCD4 was added gene: ABCD4 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: ABCD4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ABCD4 were set to 22922874 Phenotypes for gene: ABCD4 were set to METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE 614857 |
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DDG2P v0.1 | ABCD1 |
Rebecca Foulger gene: ABCD1 was added gene: ABCD1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ABCD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ABCD1 were set to ADRENOLEUKODYSTROPHY, X-LINKED 300100 |
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DDG2P v0.1 | ABCC9 |
Rebecca Foulger gene: ABCC9 was added gene: ABCC9 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ABCC9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ABCC9 were set to CANTU SYNDROME HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA 239850 Mode of pathogenicity for gene: ABCC9 was set to Other - please provide details in the comments |
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DDG2P v0.1 | ABCC6 |
Rebecca Foulger gene: ABCC6 was added gene: ABCC6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ABCC6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ABCC6 were set to 22209248 Phenotypes for gene: ABCC6 were set to ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2 614473 |
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DDG2P v0.1 | ABCB7 |
Rebecca Foulger gene: ABCB7 was added gene: ABCB7 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ABCB7 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ABCB7 were set to ANEMIA, SIDEROBLASTIC, WITH ATAXIA 301310 Mode of pathogenicity for gene: ABCB7 was set to Other - please provide details in the comments |
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DDG2P v0.1 | ABCB6 |
Rebecca Foulger gene: ABCB6 was added gene: ABCB6 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: ABCB6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ABCB6 were set to 22226084 Phenotypes for gene: ABCB6 were set to MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7 614497 Mode of pathogenicity for gene: ABCB6 was set to Other - please provide details in the comments |
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DDG2P v0.1 | ABCB11 |
Rebecca Foulger gene: ABCB11 was added gene: ABCB11 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ABCB11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ABCB11 were set to 10579978; 16039748; 9806540 Phenotypes for gene: ABCB11 were set to ABCB11-RELATED INTRAHEPATIC CHOLESTASIS 601847 |
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DDG2P v0.1 | AASS |
Rebecca Foulger gene: AASS was added gene: AASS was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: AASS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AASS were set to 934735; 10775527 Phenotypes for gene: AASS were set to HYPERLYSINEMIA 238700 |
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DDG2P v0.1 | AARS |
Rebecca Foulger gene: AARS was added gene: AARS was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: AARS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AARS were set to 25817015 Phenotypes for gene: AARS were set to EARLY-ONSET EPILEPTIC ENCEPHALOPATHY WITH PERSISTENT MYELINATION DEFECT. |
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DDG2P v0.1 | AAAS |
Rebecca Foulger gene: AAAS was added gene: AAAS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: AAAS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AAAS were set to 11701718; 11159947; 18628786; 15173230; 11062474 Phenotypes for gene: AAAS were set to ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME 231550 |
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DDG2P v0.0 |
Ellen McDonagh Added Panel DDG2P Set panel types to: GMS Rare Disease Virtual |