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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).
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).
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.
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
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)
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)
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
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
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
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)
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
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)
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)
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
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
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
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
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
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
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
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
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
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)
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
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
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)
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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)
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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)
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
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
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
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
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
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
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)
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
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
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
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
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)
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)
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
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)
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
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
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
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)
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
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
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
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
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
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
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
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
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
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
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.
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
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
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
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
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
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
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
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
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
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
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
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)
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)
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)
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)
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
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
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
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
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
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
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
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)
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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)
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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)
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
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
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
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
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
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
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
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
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
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
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
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
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)
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
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
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
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
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
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
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)
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
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
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)
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
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
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
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
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
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)
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
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
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)
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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)
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
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
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
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
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
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
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
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
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
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
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
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
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)
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
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
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
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
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
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)
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
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
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
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)
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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)
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
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
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)
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)
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
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
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
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
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
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
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
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
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
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
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)
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
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
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
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
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
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
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
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
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)
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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)
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
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
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
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
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
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
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
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
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
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
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
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)
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
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
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
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
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
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
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
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
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)
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)
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
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
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
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
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
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
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
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
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
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
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
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)
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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)
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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)
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)
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
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
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
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
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
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
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
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
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
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
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)
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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.
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.
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.
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
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.
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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,
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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.
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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.
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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.
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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 KOHLSCHŸTTER-TšNZ SYNDROME 226750
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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.
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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.
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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.
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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.
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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.
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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.
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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.
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
DDG2P v0.0 Ellen McDonagh Added Panel DDG2P
Set panel types to: GMS Rare Disease Virtual