| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| DDG2P v3.73 | SHROOM3 | Eleanor Williams commented on gene: SHROOM3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.73 | SHROOM3 | Eleanor Williams Tag gene-checked tag was added to gene: SHROOM3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 v3.66 | CHRNA2 | Achchuthan Shanmugasundram Phenotypes for gene: CHRNA2 were changed from CHRNA2-RELATED NOCTURNAL FRONTAL LOBE EPILEPSY, AUTOSOMAL DOMINANT, OMIM:291607 to CHRNA2-RELATED NOCTURNAL FRONTAL LOBE EPILEPSY, AUTOSOMAL DOMINANT, OMIM:291607 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.66 | CHRNA2 | Achchuthan Shanmugasundram Phenotypes for gene: CHRNA2 were changed from CHRNA2-RELATED NOCTURNAL FRONTAL LOBE EPILEPSY, AUTOSOMAL DOMINANT 291607; NOCTURNAL FRONTAL LOBE EPILEPSY, AUTOSOMAL DOMINANT 117426 to CHRNA2-RELATED NOCTURNAL FRONTAL LOBE EPILEPSY, AUTOSOMAL DOMINANT, OMIM:291607 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.65 | CHRNA2 | Achchuthan Shanmugasundram Tag watchlist was removed from gene: CHRNA2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.55 | MYH3 | Achchuthan Shanmugasundram Phenotypes for gene: MYH3 were changed from DISTAL ARTHROGRYPOSIS TYPE 2A, OMIM:193700; Recessive Spondylocarpotarsal Synostosis Syndrome to DISTAL ARTHROGRYPOSIS TYPE 2A, OMIM:193700; Recessive Spondylocarpotarsal Synostosis Syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.55 | MYH3 | Achchuthan Shanmugasundram Phenotypes for gene: MYH3 were changed from DISTAL ARTHROGRYPOSIS TYPE 2A, OMIM:193700; Recessive Spondylocarpotarsal Synostosis Syndrome to DISTAL ARTHROGRYPOSIS TYPE 2A, OMIM:193700; Recessive Spondylocarpotarsal Synostosis Syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.55 | MYH3 | Achchuthan Shanmugasundram Phenotypes for gene: MYH3 were changed from DISTAL ARTHROGRYPOSIS TYPE 2A 193700; DISTAL ARTHROGRYPOSIS TYPE 2B 601680; Recessive Spondylocarpotarsal Synostosis Syndrome to DISTAL ARTHROGRYPOSIS TYPE 2A, OMIM:193700; Recessive Spondylocarpotarsal Synostosis Syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.54 | MYH3 |
Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease Recessive Spondylocarpotarsal Synostosis Syndrome is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID:29805041). The DDG2P confidence category for the disease DISTAL ARTHROGRYPOSIS TYPE 2A, OMIM:193700 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 18695058;16642020).; to: The DDG2P confidence category for the disease Recessive Spondylocarpotarsal Synostosis Syndrome is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID:29805041). The DDG2P confidence category for the disease DISTAL ARTHROGRYPOSIS TYPE 2A, OMIM:193700 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 18695058;16642020). |
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| DDG2P v3.52 | MAGEL2 | Achchuthan Shanmugasundram Phenotypes for gene: MAGEL2 were changed from Schaaf-Yang syndrome; ARTHROGRYPOSIS MULTIPLEX CONGENITA to Schaaf-Yang syndrome, OMIM:615547 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.35 | GJB3 | Achchuthan Shanmugasundram Phenotypes for gene: GJB3 were changed from DEAFNESS AUTOSOMAL DOMINANT TYPE 2B, OMIM:612644; ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, OMIM:133200; DEAFNESS, AUTOSOMAL RECESSIVE to DEAFNESS AUTOSOMAL DOMINANT TYPE 2B, OMIM:612644; ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, OMIM:133200; DEAFNESS, AUTOSOMAL RECESSIVE | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.35 | GJB3 | Achchuthan Shanmugasundram Phenotypes for gene: GJB3 were changed from DEAFNESS AUTOSOMAL DOMINANT TYPE 2B, OMIM:612644; ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, OMIM:133200; DEAFNESS, AUTOSOMAL RECESSIVE to DEAFNESS AUTOSOMAL DOMINANT TYPE 2B, OMIM:612644; ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, OMIM:133200; DEAFNESS, AUTOSOMAL RECESSIVE | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.35 | GJB3 | Achchuthan Shanmugasundram Phenotypes for gene: GJB3 were changed from DEAFNESS AUTOSOMAL DOMINANT TYPE 2B 612644; DEAFNESS, AUTOSOMAL RECESSIVE; ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 133200 to DEAFNESS AUTOSOMAL DOMINANT TYPE 2B, OMIM:612644; ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, OMIM:133200; DEAFNESS, AUTOSOMAL RECESSIVE | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.34 | MYH8 | Achchuthan Shanmugasundram Phenotypes for gene: MYH8 were changed from DISTAL ARTHROGRYPOSIS TYPE, OMIM:158300; CARNEY COMPLEX VARIANT, OMIM:608837 to DISTAL ARTHROGRYPOSIS TYPE, OMIM:158300; CARNEY COMPLEX VARIANT, OMIM:608837 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.34 | MYH8 | Achchuthan Shanmugasundram Phenotypes for gene: MYH8 were changed from DISTAL ARTHROGRYPOSIS TYPE, OMIM:158300; CARNEY COMPLEX VARIANT, OMIM:608837 to DISTAL ARTHROGRYPOSIS TYPE, OMIM:158300; CARNEY COMPLEX VARIANT, OMIM:608837 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.34 | MYH8 | Achchuthan Shanmugasundram Phenotypes for gene: MYH8 were changed from DISTAL ARTHROGRYPOSIS TYPE 158300; CARNEY COMPLEX VARIANT 608837 to DISTAL ARTHROGRYPOSIS TYPE, OMIM:158300; CARNEY COMPLEX VARIANT, OMIM:608837 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.33 | MYH8 |
Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease CARNEY COMPLEX VARIANT, OMIM:608837 is limited. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and potential IF respectively (PMIDs: 28377322;15282353). The DDG2P confidence category for the disease DISTAL ARTHROGRYPOSIS TYPE, OMIM:158300 is limited. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, absent gene product and potential IF respectively (PMIDs: ).; to: The DDG2P confidence category for the disease CARNEY COMPLEX VARIANT, OMIM:608837 is limited. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and potential IF respectively (PMIDs: 28377322;15282353). The DDG2P confidence category for the disease DISTAL ARTHROGRYPOSIS TYPE, OMIM:158300 is limited. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, absent gene product and potential IF respectively. |
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| DDG2P v3.30 | SMAD4 | Achchuthan Shanmugasundram Phenotypes for gene: SMAD4 were changed from Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, OMIM:175050; MYHRE SYNDROME, OMIM:139210 to Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, OMIM:175050; MYHRE SYNDROME, OMIM:139210 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.30 | SMAD4 | Achchuthan Shanmugasundram Phenotypes for gene: SMAD4 were changed from JUVENILE POLYPOSIS SYNDROME 174900; MYHRE SYNDROME 139210; JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME 175050 to Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, OMIM:175050; MYHRE SYNDROME, OMIM:139210 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.29 | SMAD4 |
Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, OMIM:175050 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, absent gene product and potential IF respectively (PMIDs: ). The DDG2P confidence category for the disease MYHRE SYNDROME, OMIM:139210 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure.; to: The DDG2P confidence category for the disease Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, OMIM:175050 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, absent gene product and potential IF respectively. The DDG2P confidence category for the disease MYHRE SYNDROME, OMIM:139210 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure. |
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| DDG2P v3.14 | GJB3 |
Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease DEAFNESS, AUTOSOMAL RECESSIVE is moderate. The allelic requirement, mutation consequence and cross cutting modifier are biallelic_autosomal, absent gene product and potential IF respectively (PMIDs: ). The DDG2P confidence category for the disease DEAFNESS AUTOSOMAL DOMINANT TYPE 2B, OMIM:612644 is moderate. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, absent gene product and potential IF respectively (PMIDs: ). The DDG2P confidence category for the disease ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, OMIM:133200 is strong. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and potential IF respectively (PMIDs: ).; to: The DDG2P confidence category for the disease DEAFNESS, AUTOSOMAL RECESSIVE is moderate. The allelic requirement, mutation consequence and cross cutting modifier are biallelic_autosomal, absent gene product and potential IF respectively. The DDG2P confidence category for the disease DEAFNESS AUTOSOMAL DOMINANT TYPE 2B, OMIM:612644 is moderate. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, absent gene product and potential IF respectively. The DDG2P confidence category for the disease ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, OMIM:133200 is strong. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and potential IF respectively. |
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| DDG2P v3.12 | ZFPM2 | Achchuthan Shanmugasundram reviewed gene: ZFPM2: Rating: RED; Mode of pathogenicity: ; Publications: 16103912, 24549039; Phenotypes: DIAPHRAGMATIC HERNIA 3, OMIM:610187, ZFPM2-associated malformation syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | YRDC | Achchuthan Shanmugasundram reviewed gene: YRDC: Rating: GREEN; Mode of pathogenicity: ; Publications: 31481669, 34545459; Phenotypes: YRDC-associated nephrotic syndrome and microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | XPNPEP3 | Achchuthan Shanmugasundram reviewed gene: XPNPEP3: Rating: RED; Mode of pathogenicity: ; Publications: 20179356; Phenotypes: NEPHRONOPHTHISIS-LIKE NEPHROPATHY TYPE 1, OMIM:613159; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | WDR73 | Achchuthan Shanmugasundram reviewed gene: WDR73: Rating: GREEN; Mode of pathogenicity: ; Publications: 25466283; Phenotypes: GALLOWAY-MOWAT SYNDROME: MICROCEPHALY AND STEROID-RESISTANT NEPHROTIC SYNDROME; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | VPS33B | Achchuthan Shanmugasundram reviewed gene: VPS33B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, OMIM:208085; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | VIPAS39 | Achchuthan Shanmugasundram reviewed gene: VIPAS39: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2, OMIM:613404; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | USP14 | Achchuthan Shanmugasundram reviewed gene: USP14: Rating: RED; Mode of pathogenicity: Other; Publications: 35066879; Phenotypes: DISTAL ARTHROGRYPOSIS; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | UROS | Achchuthan Shanmugasundram reviewed gene: UROS: Rating: GREEN; Mode of pathogenicity: ; Publications: 8946173, 19965637, 7860775, 2331520, 12060141, 1733834, 11254675, 9834209; Phenotypes: CONGENITAL ERYTHROPOIETIC PORPHYRIA, OMIM:263700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | UHRF1 | Achchuthan Shanmugasundram reviewed gene: UHRF1: Rating: RED; Mode of pathogenicity: Other; Publications: 36458887; Phenotypes: UHRF1-related immunodeficiency-centromeric instability-facial anomalies syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TWIST1 | Achchuthan Shanmugasundram reviewed gene: TWIST1: Rating: GREEN; Mode of pathogenicity: ; Publications: 17343269, 8988166, 8988167, 9259286; Phenotypes: SAETHRE-CHOTZEN SYNDROME, OMIM:101400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TTN | Achchuthan Shanmugasundram reviewed gene: TTN: Rating: GREEN; Mode of pathogenicity: ; Publications: 31660661, 32778822, 29575618, 36495114, 29691892, 17444505, 35605965, 28040389; Phenotypes: Autosomal recessive titinopathy with arthrogryposis and/or myopathy , OMIM:611705; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TSHR | Achchuthan Shanmugasundram reviewed gene: TSHR: Rating: GREEN; Mode of pathogenicity: Other; Publications: 9100579, 9589691, 7528344, 9329388, 9185526, 8954020, 11095460, 12050212, 10720030, 9854118; Phenotypes: HYPERTHYROIDISM, FAMILIAL GESTATIONAL, OMIM:603373, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, OMIM:275200; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TSHB | Achchuthan Shanmugasundram reviewed gene: TSHB: Rating: GREEN; Mode of pathogenicity: ; Publications: 2792087; Phenotypes: HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4, OMIM:275100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TRNT1 | Achchuthan Shanmugasundram reviewed gene: TRNT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25193871, 29170023, 27370603, 32592741, 33936027, 27389523, 32181284, 26494905, 33843817, 30758723; Phenotypes: Retinitis pigmentosa and erythrocytic microcytosis, OMIM:616959; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TPM2 | Achchuthan Shanmugasundram reviewed gene: TPM2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 12592607; Phenotypes: ARTHROGRYPOSIS, DISTAL, TYPE 1, OMIM:108120; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TMEM67 | Achchuthan Shanmugasundram reviewed gene: TMEM67: Rating: GREEN; Mode of pathogenicity: ; Publications: 19508969, 17377820, 16415887; Phenotypes: NEPHRONOPHTHISIS TYPE 11, OMIM:613550, COACH SYNDROME, OMIM:216360; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | THRA | Achchuthan Shanmugasundram reviewed gene: THRA: Rating: GREEN; Mode of pathogenicity: ; Publications: 22494134, 22168587; Phenotypes: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, OMIM:614450; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TCTN3 | Achchuthan Shanmugasundram reviewed gene: TCTN3: Rating: GREEN; Mode of pathogenicity: ; Publications: 22883145; Phenotypes: MOHR-MAJEWSKI SYNDROME, OMIM:258860; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SON | Achchuthan Shanmugasundram reviewed gene: SON: Rating: GREEN; Mode of pathogenicity: ; Publications: 27545676, 27545680; Phenotypes: Intellectual Disability, Congenital Malformations, and Failure to Thrive; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SMPD4 | Achchuthan Shanmugasundram reviewed gene: SMPD4: Rating: GREEN; Mode of pathogenicity: ; Publications: 31495489; Phenotypes: Developmental Disorder with Microcephaly and Congenital Arthrogryposis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SMAD4 | Achchuthan Shanmugasundram reviewed gene: SMAD4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, OMIM:175050, MYHRE SYNDROME, OMIM:139210; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SLC9A6 | Achchuthan Shanmugasundram reviewed gene: SLC9A6: Rating: GREEN; Mode of pathogenicity: ; Publications: 20395263, 10528855, 18342287; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER SYNDROMIC X-LINKED CHRISTIANSON TYPE, OMIM:300243; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SLC6A9 | Achchuthan Shanmugasundram reviewed gene: SLC6A9: Rating: GREEN; Mode of pathogenicity: ; Publications: 27773429; Phenotypes: Glycine Encephalopathy with Arthrogryposis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SLC25A24 | Achchuthan Shanmugasundram reviewed gene: SLC25A24: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29100094, 29100093; Phenotypes: Gorlin-Chaudhry-Moss syndrome (GCMS), Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SHROOM3 | Achchuthan Shanmugasundram reviewed gene: SHROOM3: Rating: GREEN; Mode of pathogenicity: ; Publications: 25805808; Phenotypes: NEURAL TUBE DEFECT; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SEC23B | Achchuthan Shanmugasundram reviewed gene: SEC23B: Rating: GREEN; Mode of pathogenicity: ; Publications: 19621418, 19561605; Phenotypes: ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II, OMIM:224100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SCO2 | Achchuthan Shanmugasundram reviewed gene: SCO2: Rating: GREEN; Mode of pathogenicity: ; Publications: 10749987, 14994243, 10545952, 18924171; Phenotypes: FATAL INFANTILE CARDIOENCEPHALOMYOPATHY DUE TO CYTOCHROME C OXIDASE DEFICIENCY, OMIM:604377; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RUBCN | Achchuthan Shanmugasundram reviewed gene: RUBCN: Rating: RED; Mode of pathogenicity: Other; Publications: ; Phenotypes: SYNDROMIC MR WITH ATAXIA, DYSARTHRIA AND EPILEPSY; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RNF13 | Achchuthan Shanmugasundram reviewed gene: RNF13: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30595371; Phenotypes: Congenital Microcephaly Epileptic Encephalopathy Blindness and Failure to Thrive; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RBM8A | Achchuthan Shanmugasundram reviewed gene: RBM8A: Rating: GREEN; Mode of pathogenicity: ; Publications: 22366785; Phenotypes: THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME, OMIM:274000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RARB | Achchuthan Shanmugasundram reviewed gene: RARB: Rating: GREEN; Mode of pathogenicity: ; Publications: 27120018, 24075189; Phenotypes: MICROPHTHALMIA AND DIAPHRAGMATIC HERNIA, Microphthalmia, syndromic 12, OMIM:615524; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PLCE1 | Achchuthan Shanmugasundram reviewed gene: PLCE1: Rating: GREEN; Mode of pathogenicity: ; Publications: 20591883, 17086182; Phenotypes: NEPHROTIC SYNDROME, TYPE 3, OMIM:610725; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PIEZO2 | Achchuthan Shanmugasundram reviewed gene: PIEZO2: Rating: GREEN; Mode of pathogenicity: ; Publications: 27974811, 27653382, 27912047, 24726473; Phenotypes: Ataxia, dysmetria, contractures & scoliosis with normal cognition but loss of discriminative touch perception, ARTHROGRYPOSIS, DISTAL, TYPE 3, OMIM:114300; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PI4KA | Achchuthan Shanmugasundram reviewed gene: PI4KA: Rating: GREEN; Mode of pathogenicity: ; Publications: 34415310, 34415322, 25855803; Phenotypes: PI4KA-associated polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PDE6H | Achchuthan Shanmugasundram reviewed gene: PDE6H: Rating: GREEN; Mode of pathogenicity: ; Publications: 27472364, 22901948, 15629837; Phenotypes: ACHROMATOPSIA, RETINAL CONE DYSTROPHY 3 PDE6H, OMIM:610024; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | OSGEP | Achchuthan Shanmugasundram reviewed gene: OSGEP: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28805828; Phenotypes: Nephrotic syndrome with primary microcephaly; 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 | NPHS2 | Achchuthan Shanmugasundram reviewed gene: NPHS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 8589695, 8606597, 12464671, 10742096; Phenotypes: NEPHROTIC SYNDROME, TYPE 2, OMIM:600995; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NPHS1 | Achchuthan Shanmugasundram reviewed gene: NPHS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 9660941, 10652016, 10577936, 17290294, 11854170; Phenotypes: NEPHROTIC SYNDROME TYPE 1, OMIM:256300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NPHP4 | Achchuthan Shanmugasundram reviewed gene: NPHP4: Rating: GREEN; Mode of pathogenicity: ; Publications: 12244321; Phenotypes: NEPHRONOPHTHISIS TYPE 4, OMIM:606966; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NPHP3 | Achchuthan Shanmugasundram reviewed gene: NPHP3: Rating: GREEN; Mode of pathogenicity: ; Publications: 19303681, 12872122; Phenotypes: NEPHRONOPHTHISIS TYPE 3, OMIM:604387; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NPHP1 | Achchuthan Shanmugasundram reviewed gene: NPHP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 9326933, 9382140, 8852662, 10839884; Phenotypes: NEPHRONOPHTHISIS TYPE 1, OMIM:256100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NEK8 | Achchuthan Shanmugasundram reviewed gene: NEK8: Rating: GREEN; Mode of pathogenicity: ; Publications: 18199800, 23418306; Phenotypes: NEPHRONOPHTHISIS 9, OMIM:613824, RENAL-HEPATIC-PANCREATIC DYSPLASIA 2, OMIM:615415; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MYRF | Achchuthan Shanmugasundram reviewed gene: MYRF: Rating: GREEN; Mode of pathogenicity: ; Publications: 31069960, 29446546, 30532227, 30070761; Phenotypes: Pulmonary artery and lung hypoplasia, agonadism, omphalocele, diaphragmatic defects, hypoplastic left heart and scimitar syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MYLPF | Achchuthan Shanmugasundram reviewed gene: MYLPF: Rating: GREEN; Mode of pathogenicity: Other; Publications: 32707087; Phenotypes: MYLPF arthrogryposis (monoallelic), MYLPF arthrogryposis (biallelic); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MYH9 | Achchuthan Shanmugasundram reviewed gene: MYH9: Rating: GREEN; Mode of pathogenicity: Other; Publications: 10973259, 25077172; Phenotypes: MACROTHROMBOCYTOPENIA AND GRANULOCYTE INCLUSIONS WITH OR WITHOUT NEPHRITIS OR SENSORINEURAL HEARING LOSS, OMIM:155100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MYH8 | Achchuthan Shanmugasundram reviewed gene: MYH8: Rating: RED; Mode of pathogenicity: ; Publications: 28377322, 15282353; Phenotypes: DISTAL ARTHROGRYPOSIS TYPE, OMIM:158300, CARNEY COMPLEX VARIANT, OMIM:608837; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MYH3 | Achchuthan Shanmugasundram reviewed gene: MYH3: Rating: GREEN; Mode of pathogenicity: ; Publications: 29805041, 18695058, 16642020; Phenotypes: DISTAL ARTHROGRYPOSIS TYPE 2A, OMIM:193700, Recessive Spondylocarpotarsal Synostosis Syndrome; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MYBPC1 | Achchuthan Shanmugasundram reviewed gene: MYBPC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 31264822, 31966463, 22610851, 26661508, 25679999, 20045868; Phenotypes: LETHAL CONGENITAL CONTRACTURE SYNDROME 4, OMIM:614915, MYBPC1-related arthrogryposis and myopathy; Mode of inheritance: BOTH monoallelic and 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 | MECOM | Achchuthan Shanmugasundram reviewed gene: MECOM: Rating: GREEN; Mode of pathogenicity: Other; Publications: 26581901; Phenotypes: Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LONP1 | Achchuthan Shanmugasundram reviewed gene: LONP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 34547244, 25574826; Phenotypes: CODAS SYNDROME, OMIM:600373, LONP1-associated congenital diaphragmatic hernia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LGI4 | Achchuthan Shanmugasundram reviewed gene: LGI4: Rating: GREEN; Mode of pathogenicity: ; Publications: 28318499; Phenotypes: ARTHROGRYPOSIS MULTIPLEX CONGENITA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KLF1 | Achchuthan Shanmugasundram reviewed gene: KLF1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 21055716; Phenotypes: ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE IV, OMIM:613673; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KANSL1 | Achchuthan Shanmugasundram reviewed gene: KANSL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22544363, 22544367; Phenotypes: CHROMOSOME 17Q21.31 MICRODELETION SYNDROME, OMIM:610443; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ITGA3 | Achchuthan Shanmugasundram reviewed gene: ITGA3: Rating: GREEN; Mode of pathogenicity: ; Publications: 22512483; Phenotypes: INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, OMIM:614748; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | IGF2 | Achchuthan Shanmugasundram reviewed gene: IGF2: Rating: GREEN; Mode of pathogenicity: ; Publications: 26154720; Phenotypes: CHROMOSOME 11P15.5-RELATED RUSSELL-SILVER SYNDROME, OMIM:180860, BECKWITH-WIEDEMANN SYNDROME, OMIM:130650; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HRAS | Achchuthan Shanmugasundram reviewed gene: HRAS: Rating: GREEN; Mode of pathogenicity: Other; Publications: 17054105, 16835863, 18039947, 18247425, 17412879, 17468812, 16170316, 19995790, 16443854, 17056636; Phenotypes: CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, OMIM:218040, COSTELLO SYNDROME, OMIM:218040; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HR | Achchuthan Shanmugasundram reviewed gene: HR: Rating: GREEN; Mode of pathogenicity: ; Publications: 19897589, 17680008, 9856480, 9758627, 9445480, 10051399, 10777357, 10205263, 10469319, 12271294, 9463324; Phenotypes: ATRICHIA WITH PAPULAR LESIONS, OMIM:209500, ALOPECIA UNIVERSALIS, OMIM:146550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HPGD | Achchuthan Shanmugasundram reviewed gene: HPGD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: CRANIOOSTEOARTHROPATHY, OMIM:259100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HOXA11 | Achchuthan Shanmugasundram reviewed gene: HOXA11: Rating: RED; Mode of pathogenicity: ; Publications: 26581901; Phenotypes: Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GLIS2 | Achchuthan Shanmugasundram reviewed gene: GLIS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 17618285; Phenotypes: NEPHRONOPHTHISIS 7, OMIM:611498; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GLE1 | Achchuthan Shanmugasundram reviewed gene: GLE1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 18204449; Phenotypes: ARTHROGRYPOSIS, LETHAL, WITH ANTERIOR HORN CELL DISEASE, OMIM:611890; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GLDN | Achchuthan Shanmugasundram reviewed gene: GLDN: Rating: GREEN; Mode of pathogenicity: ; Publications: 27616481; Phenotypes: Lethal arthroogryposis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GJB3 | Achchuthan Shanmugasundram reviewed gene: GJB3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: DEAFNESS AUTOSOMAL DOMINANT TYPE 2B, OMIM:612644, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, OMIM:133200, DEAFNESS, AUTOSOMAL RECESSIVE; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GHR | Achchuthan Shanmugasundram reviewed gene: GHR: Rating: GREEN; Mode of pathogenicity: ; Publications: 11468686, 15001620, 8626815, 12679461, 15536163, 2779634, 9661642, 8488849, 2813379, 17405847, 9851797, 9360529, 9467570, 2233903; Phenotypes: PITUITARY DWARFISM II, OMIM:262500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GATA6 | Achchuthan Shanmugasundram reviewed gene: GATA6: Rating: GREEN; Mode of pathogenicity: ; Publications: 20631719, 20581743, 8071961, 22158542; Phenotypes: PANCREATIC AGENESIS, DIAPHRAGMATIC HERNIA AND CONGENITAL HEART DEFECTS, OMIM:600001, ATRIOVENTRICULAR SEPTAL DEFECT 5, OMIM:614474, ATRIAL SEPTAL DEFECT 9, OMIM:614475; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ECEL1 | Achchuthan Shanmugasundram reviewed gene: ECEL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23261301; Phenotypes: DISTAL ARTHROGRYPOSIS TYPE 5D, OMIM:615065; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DHRS3 | Achchuthan Shanmugasundram reviewed gene: DHRS3: Rating: RED; Mode of pathogenicity: Other; Publications: ; Phenotypes: DHRS3 related craniosynostosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CTNS | Achchuthan Shanmugasundram reviewed gene: CTNS: Rating: GREEN; Mode of pathogenicity: ; Publications: 10673275, 11565547, 10625078, 9792862, 12442267, 11505338, 10556299, 9537412, 10444339, 19863563; Phenotypes: CYSTINOSIS NEPHROPATHIC TYPE, OMIM:219800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CHRNG | Achchuthan Shanmugasundram reviewed gene: CHRNG: Rating: GREEN; Mode of pathogenicity: ; Publications: 16826520; Phenotypes: MULTIPLE PTERYGIUM SYNDROME ESCOBAR VARIANT, OMIM:265000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CHRNB2 | Achchuthan Shanmugasundram reviewed gene: CHRNB2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 11062464; Phenotypes: CHRNB2-RELATED NOCTURNAL FRONTAL LOBE EPILEPSY, AUTOSOMAL DOMINANT, OMIM:605375; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CHRNB1 | Achchuthan Shanmugasundram reviewed gene: CHRNB1: Rating: GREEN; Mode of pathogenicity: ; Publications: 8872460, 10562302, 33296147, 27375219, 8651643; Phenotypes: CHRNB1-related congenital myaesthenia, biallelic, OMIM:616314, CHRNB1-related congenital myaesthenia, monoallelic, OMIM:616313; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CHRNA4 | Achchuthan Shanmugasundram reviewed gene: CHRNA4: Rating: GREEN; Mode of pathogenicity: Other; Publications: 7647781; Phenotypes: NOCTURNAL FRONTAL LOBE EPILEPSY TYPE 1, OMIM:600513; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CHRNA3 | Achchuthan Shanmugasundram reviewed gene: CHRNA3: Rating: GREEN; Mode of pathogenicity: ; Publications: 31708116; Phenotypes: CHRNA3-related congenital anomalies of the kidney and urinary tract; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CHRNA2 | Achchuthan Shanmugasundram reviewed gene: CHRNA2: Rating: RED; Mode of pathogenicity: Other; Publications: 25770198, 25847220, 16826524, 30809122; Phenotypes: CHRNA2-RELATED NOCTURNAL FRONTAL LOBE EPILEPSY, AUTOSOMAL DOMINANT, OMIM:291607; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CHRNA1 | Achchuthan Shanmugasundram reviewed gene: CHRNA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MULTIPLE PTERYGIUM SYNDROME LETHAL TYPE, OMIM:253290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CHRM1 | Achchuthan Shanmugasundram reviewed gene: CHRM1: Rating: RED; Mode of pathogenicity: Other; Publications: 34212451; Phenotypes: CHRM1-associated intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CHRDL1 | Achchuthan Shanmugasundram reviewed gene: CHRDL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22284829, 26020825, 25712132; Phenotypes: MEGALOCORNEA, X-LINKED, OMIM:309300; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CEP83 | Achchuthan Shanmugasundram reviewed gene: CEP83: Rating: GREEN; Mode of pathogenicity: ; Publications: 24882706; Phenotypes: INFANTILE NEPHRONOPHTHISIS AND INTELLECTUAL DISABILITY; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CD151 | Achchuthan Shanmugasundram reviewed gene: CD151: Rating: GREEN; Mode of pathogenicity: ; Publications: 15265795; Phenotypes: NEPHROPATHY WITH PRETIBIAL EPIDERMOLYSIS BULLOSA AND DEAFNESS, OMIM:609057; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CCDC8 | Achchuthan Shanmugasundram reviewed gene: CCDC8: Rating: GREEN; Mode of pathogenicity: ; Publications: 21737058; Phenotypes: THREE M SYNDROME 3, OMIM:614205; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ATP5A1 | Achchuthan Shanmugasundram reviewed gene: ATP5A1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 34483339, 23599390, 23596069; Phenotypes: ATP5F1A-related mitochondrial encephalopathy, OMIM:615228, ATP5F1A-related failure to thrive, hyperlactatemia and hyperammonemia; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ASXL1 | Achchuthan Shanmugasundram reviewed gene: ASXL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22419483, 21706002; Phenotypes: BOHRING-OPITZ SYNDROME, OMIM:605039; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ANKRD26 | Achchuthan Shanmugasundram reviewed gene: ANKRD26: Rating: GREEN; Mode of pathogenicity: Other; Publications: 10521306, 21211618; Phenotypes: THROMBOCYTOPENIA 2, OMIM:188000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ALDH1A2 | Achchuthan Shanmugasundram reviewed gene: ALDH1A2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33565183; Phenotypes: ALDH1A2-related diaphragmatic hernia and pulmonary hypoplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ADAR | Achchuthan Shanmugasundram reviewed gene: ADAR: Rating: GREEN; Mode of pathogenicity: ; Publications: 16935814, 23001123, 17478391, 24262145, 16817193, 12916015; Phenotypes: AICARDI-GOUTIERES SYNDROME ASSOCIATED WITH A TYPE I INTERFERON SIGNATURE, OMIM:615010, AICARDI-GOUTIERES SYNDROME ASSOCIATED WITH A TYPE I INTERFERON SIGNATURE BIALLELIC, OMIM:615010, DYSCHROMATOSIS SYMMETRICA HEREDITARIA 1, OMIM:127400; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ADAMTS9 | Achchuthan Shanmugasundram reviewed gene: ADAMTS9: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30609407; Phenotypes: Nephronophthisis Related Ciliopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | YRDC |
Achchuthan Shanmugasundram gene: YRDC was added gene: YRDC was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: YRDC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: YRDC were set to 31481669; 34545459 Phenotypes for gene: YRDC were set to YRDC-associated nephrotic syndrome and microcephaly |
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| DDG2P v3.11 | USP14 |
Achchuthan Shanmugasundram gene: USP14 was added gene: USP14 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: USP14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: USP14 were set to 35066879 Phenotypes for gene: USP14 were set to DISTAL ARTHROGRYPOSIS Mode of pathogenicity for gene: USP14 was set to Other |
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| DDG2P v3.11 | UHRF1 |
Achchuthan Shanmugasundram gene: UHRF1 was added gene: UHRF1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: UHRF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UHRF1 were set to 36458887 Phenotypes for gene: UHRF1 were set to UHRF1-related immunodeficiency-centromeric instability-facial anomalies syndrome Mode of pathogenicity for gene: UHRF1 was set to Other |
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| DDG2P v3.11 | TSHR |
Achchuthan Shanmugasundram Mode of pathogenicity for gene TSHR was changed from Other - please provide details in the comments to Other Publications for gene: TSHR were updated from 9854118 to 9100579; 9589691; 7528344; 9329388; 9185526; 8954020; 11095460; 12050212; 10720030; 9854118 |
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| DDG2P v3.11 | TRNT1 |
Achchuthan Shanmugasundram gene: TRNT1 was added gene: TRNT1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TRNT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRNT1 were set to 25193871; 29170023; 27370603; 32592741; 33936027; 27389523; 32181284; 26494905; 33843817; 30758723 Phenotypes for gene: TRNT1 were set to Retinitis pigmentosa and erythrocytic microcytosis, OMIM:616959 |
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| DDG2P v3.11 | THRA | Achchuthan Shanmugasundram Publications for gene: THRA were updated from 22168587; 22494134 to 22494134; 22168587 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SHROOM3 |
Achchuthan Shanmugasundram Source Expert Review Green was added to SHROOM3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | PI4KA |
Achchuthan Shanmugasundram gene: PI4KA was added gene: PI4KA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PI4KA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PI4KA were set to 34415310; 34415322; 25855803 Phenotypes for gene: PI4KA were set to PI4KA-associated polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531 |
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| DDG2P v3.11 | MYLPF |
Achchuthan Shanmugasundram gene: MYLPF was added gene: MYLPF was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MYLPF was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYLPF were set to 32707087 Phenotypes for gene: MYLPF were set to MYLPF arthrogryposis (monoallelic); MYLPF arthrogryposis (biallelic) Mode of pathogenicity for gene: MYLPF was set to Other |
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| DDG2P v3.11 | MYBPC1 |
Achchuthan Shanmugasundram gene: MYBPC1 was added gene: MYBPC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MYBPC1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: MYBPC1 were set to 31264822; 31966463; 22610851; 26661508; 25679999; 20045868 Phenotypes for gene: MYBPC1 were set to LETHAL CONGENITAL CONTRACTURE SYNDROME 4, OMIM:614915; MYBPC1-related arthrogryposis and myopathy |
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| DDG2P v3.11 | HRAS |
Achchuthan Shanmugasundram Mode of pathogenicity for gene HRAS was changed from Other - please provide details in the comments to Other Publications for gene: HRAS were updated from 17468812; 18247425; 16835863; 17412879; 16443854; 17056636; 18039947; 17054105; 19995790; 16170316 to 17054105; 16835863; 18039947; 18247425; 17412879; 17468812; 16170316; 19995790; 16443854; 17056636 |
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| DDG2P v3.11 | HR | Achchuthan Shanmugasundram Publications for gene: HR were updated from 9856480; 10469319; 10205263; 12271294; 10051399 to 19897589; 17680008; 9856480; 9758627; 9445480; 10051399; 10777357; 10205263; 10469319; 12271294; 9463324 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | GHR | Achchuthan Shanmugasundram Publications for gene: GHR were updated from 9360529; 12679461; 15001620; 2813379; 17405847; 15536163; 2779634; 8488849; 11468686; 8626815; 9851797; 9661642; 2233903; 9467570 to 9851797; 11468686; 9467570; 12679461; 15536163; 2779634; 9661642; 8488849; 2813379; 8626815; 15001620; 9360529; 17405847; 2233903 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | DHRS3 | Achchuthan Shanmugasundram Mode of pathogenicity for gene DHRS3 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | CHRNB2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to CHRNB2. Mode of pathogenicity for gene CHRNB2 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | CHRNB1 |
Achchuthan Shanmugasundram gene: CHRNB1 was added gene: CHRNB1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CHRNB1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: CHRNB1 were set to 8872460; 10562302; 33296147; 27375219; 8651643 Phenotypes for gene: CHRNB1 were set to CHRNB1-related congenital myaesthenia, biallelic, OMIM:616314; CHRNB1-related congenital myaesthenia, monoallelic, OMIM:616313 |
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| DDG2P v3.11 | CHRNA4 | Achchuthan Shanmugasundram Mode of pathogenicity for gene CHRNA4 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | CHRNA3 |
Achchuthan Shanmugasundram gene: CHRNA3 was added gene: CHRNA3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CHRNA3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CHRNA3 were set to 31708116 Phenotypes for gene: CHRNA3 were set to CHRNA3-related congenital anomalies of the kidney and urinary tract |
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| DDG2P v3.11 | CHRNA2 |
Achchuthan Shanmugasundram Source Expert Review Red was added to CHRNA2. Mode of pathogenicity for gene CHRNA2 was changed from Other - please provide details in the comments to Other Publications for gene: CHRNA2 were updated from to 25770198; 30809122; 16826524; 25847220 Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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| DDG2P v3.11 | CHRNA1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to CHRNA1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | CHRM1 |
Achchuthan Shanmugasundram gene: CHRM1 was added gene: CHRM1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: CHRM1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CHRM1 were set to 34212451 Phenotypes for gene: CHRM1 were set to CHRM1-associated intellectual disability Mode of pathogenicity for gene: CHRM1 was set to Other |
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| DDG2P v3.11 | CHRDL1 | Achchuthan Shanmugasundram Publications for gene: CHRDL1 were updated from 22284829 to 22284829; 26020825; 25712132 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | ATP5A1 |
Achchuthan Shanmugasundram gene: ATP5A1 was added gene: ATP5A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ATP5A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: ATP5A1 were set to 34483339; 23599390; 23596069 Phenotypes for gene: ATP5A1 were set to ATP5F1A-related mitochondrial encephalopathy, OMIM:615228; ATP5F1A-related failure to thrive, hyperlactatemia and hyperammonemia Mode of pathogenicity for gene: ATP5A1 was set to Other |
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| DDG2P v3.11 | ALDH1A2 |
Achchuthan Shanmugasundram gene: ALDH1A2 was added gene: ALDH1A2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ALDH1A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALDH1A2 were set to 33565183 Phenotypes for gene: ALDH1A2 were set to ALDH1A2-related diaphragmatic hernia and pulmonary hypoplasia Mode of pathogenicity for gene: ALDH1A2 was set to Other |
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| DDG2P v3.6 | AMOTL1 |
Irina Ziravecka edited their review of gene: AMOTL1: 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. 5 out of 16 patients in this cohort have developmental delay.; Changed phenotypes to: orofacial clefting, cardiac anomalies, tall stature, distinct dysmorphisms (abnormal head shape, craniosynostosis, hypertelorism, and large ears), myopia, hearing loss, micrognathia, immune dysfunction, scoliosis, chronic constipation, liver dysfunction, global developmental delay |
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| DDG2P v2.75 | SRY | Eleanor Williams Tag y-chromosome tag was added to gene: SRY. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.68 | PEX6 | Sarah Leigh changed review comment from: For Peroxisome biogenesis disorder 4B (OMIM:614863), Falkenberg et al (PMID: 29220678) has identified Allelic Expression Imbalance (AEI) as a mechanism responsible for the condition. Affected patients (7 unrelated cases) were monoallelic for rs61753230 (c.2578C>T, p.Arg860Trp) and rs144286892 (c.∗442_445 delTAAA), with these variants being on the same chromosome (cis). It would appear that rs144286892 causes the over expression of the allele that it is on, resulting in over expression of rs61753230. The unaffected parents analysed were monoallelic for rs61753230 and biallelic for rs144286892, resulting in overexpression of both rs61753230 and wild type alleles (PMID: 29220678). Experimental evidence revealed that rs61753230 has a dominant-negative effect on the function of the PEX1- PEX6 complex in peroxisomal matrix protein import (PMID: 29220678).; to: For Peroxisome biogenesis disorder 4B (OMIM:614863), Falkenberg et al (PMID: 29220678) has identified Allelic Expression Imbalance (AEI) as a mechanism responsible for the condition. Affected patients (7 unrelated cases) were monoallelic for rs61753230 (c.2578C>T, p.Arg860Trp) and rs144286892 (c.∗442_445 delTAAA), with these variants being on the same chromosome (cis). It would appear that rs144286892 causes the over expression of the allele that it is on, resulting in over expression of rs61753230. The unaffected parents analysed were monoallelic for rs61753230 and biallelic for rs144286892, resulting in overexpression of both rs61753230 and wild type alleles (PMID: 29220678). Experimental evidence revealed that rs61753230 has a dominant-negative effect on the function of the PEX1- PEX6 complex in peroxisomal matrix protein import (PMID: 29220678). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.67 | PEX6 | Sarah Leigh edited their review of gene: PEX6: Added comment: For Peroxisome biogenesis disorder 4B (OMIM:614863), Falkenberg et al (PMID: 29220678) has identified Allelic Expression Imbalance (AEI) as a mechanism responsible for the condition. Affected patients (7 unrelated cases) were monoallelic for rs61753230 (c.2578C>T, p.Arg860Trp) and rs144286892 (c.∗442_445 delTAAA), with these variants being on the same chromosome (cis). It would appear that rs144286892 causes the over expression of the allele that it is on, resulting in over expression of rs61753230. The unaffected parents analysed were monoallelic for rs61753230 and biallelic for rs144286892, resulting in overexpression of both rs61753230 and wild type alleles (PMID: 29220678). Experimental evidence revealed that rs61753230 has a dominant-negative effect on the function of the PEX1- PEX6 complex in peroxisomal matrix protein import (PMID: 29220678).; Changed mode of pathogenicity: Other; Changed phenotypes to: 29220678; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.60 | XPNPEP3 | Sarah Leigh edited their review of gene: XPNPEP3: Added comment: Associated with relevant phenotype in OMIM and as limited Gen2Phen gene. At least three variants were reported in three unrelated cases (PMID: 32660933; 20179356). Two of the variants were terminating (RCV000000069, RCV001554332) and the third was a missense variant (RCV000000068), that seems to activate a cryptic splice site; RT-PCR of lymphoblastoid cells showed that this resulted in the inclusion of intronic bases and a frameshift. Cilia-related function was examined by the suppression of zebrafish xpnpep3, resulting in phenotypes reminiscent of ciliopathy morphants, this effect was rescued by human XPNPEP3 that was devoid of a mitochondrial localization signal (PMID: 20179356).; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.58 | XPNPEP3 | Sarah Leigh Phenotypes for gene: XPNPEP3 were changed from NEPHRONOPHTHISIS-LIKE NEPHROPATHY TYPE 1 613159 to Nephronophthisis-like nephropathy 1 OMIM:613159; nephronophthisis-like nephropathy 1 MONDO:0013163 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.50 | ATG7 |
Dmitrijs Rots gene: ATG7 was added gene: ATG7 was added to DDG2P. Sources: Literature Mode of inheritance for gene: ATG7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATG7 were set to PMID:34161705 Phenotypes for gene: ATG7 were set to developmental delay; ataxia Review for gene: ATG7 was set to GREEN Added comment: Zornitsa Stark wrote for this gene in Ataxia panel: "12 individuals from 5 unrelated families reported with a complex neurodevelopmental disorder and bi-allelic variants in this gene. Age range from 21 months to 71 years of age. Main clinical features included axial hypotonia, variably impaired intellectual development with poor or absent speech, and delayed walking (up to 7 years of age) or inability to walk. All had ataxia, often with tremor or dyskinesia, as well as dysarthria associated with cerebellar hypoplasia on brain imaging. Most had optic atrophy, and some had ptosis, chronic progressive external ophthalmoplegia, retinopathy, and strabismus; 1 had early-onset cataracts. The more severely affected individuals had spastic paraplegia and inability to walk. Functional data including mouse model. " Should be also on ID panel. Sources: Literature |
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| DDG2P v2.50 | RAP1GDS1 |
Dmitrijs Rots gene: RAP1GDS1 was added gene: RAP1GDS1 was added to DDG2P. Sources: Literature Mode of inheritance for gene: RAP1GDS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RAP1GDS1 were set to PMID: 33875846 Phenotypes for gene: RAP1GDS1 were set to Intellectual disability, developmental delay Review for gene: RAP1GDS1 was set to GREEN Added comment: Additional cases (three with same splice variant, which segregates in one family) and one frameshift variant reported in PMID: 33875846. Cases seem to overlap ones reported in PMID: 32431071. Sources: Literature |
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| DDG2P v2.9 | 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 v1.151 | SMPD4 |
Rebecca Foulger gene: SMPD4 was added gene: SMPD4 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: SMPD4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SMPD4 were set to 31495489 Phenotypes for gene: SMPD4 were set to Developmental Disorder with Microcephaly and Congenital Arthrogryposis |
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| DDG2P v1.151 | MYRF |
Rebecca Foulger gene: MYRF was added gene: MYRF was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: MYRF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MYRF were set to 31069960; 29446546; 30532227; 30070761 Phenotypes for gene: MYRF were set to Pulmonary artery and lung hypoplasia, agonadism, omphalocele, diaphragmatic defects, hypoplastic left heart and scimitar syndrome |
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| DDG2P v1.150 | 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 v1.148 | 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 v1.136 | SMAD4 | Rebecca Foulger Phenotypes for gene: SMAD4 were changed from JUVENILE POLYPOSIS SYNDROME 174900; MYHRE SYNDROME; JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME 175050 to JUVENILE POLYPOSIS SYNDROME 174900; MYHRE SYNDROME 139210; JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME 175050 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.131 | GJB3 | Rebecca Foulger commented on gene: GJB3: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA; DEAFNESS AUTOSOMAL DOMINANT TYPE 2B; DEAFNESS, AUTOSOMAL RECESSIVE. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.131 | TIMM8A | Rebecca Foulger commented on gene: TIMM8A: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for JENSEN SYNDROME; MOHR-TRANEBJAERG SYNDROME. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.131 | MYH8 | Rebecca Foulger commented on gene: MYH8: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for DISTAL ARTHROGRYPOSIS TYPE; CARNEY COMPLEX VARIANT. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.126 | MYH6 | Rebecca Foulger changed review comment from: In a Gene2Phenotype update (September 2019) the G2P confidence rating of 'both DD and IF' was changed to 'both RD and IF' (where RD = relevant disease and IF = incidental disorder). Therefore the rating is no 'RD and IF' for all three disorders: ATRIAL SEPTAL DEFECT TYPE 3; CARDIOMYOPATHY DILATED TYPE 1EE; CARDIOMYOPATHY FAMILIAL HYPERTROPHIC TYPE 14.; to: In a Gene2Phenotype update (September 2019) the G2P confidence rating of 'both DD and IF' was changed to 'both RD and IF' (where RD = relevant disease and IF = incidental disorder). Therefore the rating is now 'RD and IF' for all three disorders: ATRIAL SEPTAL DEFECT TYPE 3; CARDIOMYOPATHY DILATED TYPE 1EE; CARDIOMYOPATHY FAMILIAL HYPERTROPHIC TYPE 14. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.126 | MYH6 | Rebecca Foulger changed review comment from: In a Gene2Phenotype update (September 2019) the G2P confidence rating of 'both DD and IF' was changed to 'both RD and IF' (where RD = relevant disease and IF = incidental disorder).; to: In a Gene2Phenotype update (September 2019) the G2P confidence rating of 'both DD and IF' was changed to 'both RD and IF' (where RD = relevant disease and IF = incidental disorder). Therefore the rating is no 'RD and IF' for all three disorders: ATRIAL SEPTAL DEFECT TYPE 3; CARDIOMYOPATHY DILATED TYPE 1EE; CARDIOMYOPATHY FAMILIAL HYPERTROPHIC TYPE 14. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.104 | TPM2 | Rebecca Foulger Phenotypes for gene: TPM2 were changed from ARTHROGRYPOSIS, DISTAL, TYPE 1 to ARTHROGRYPOSIS, DISTAL, TYPE 1 108120 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.97 | MYH9 | Rebecca Foulger Phenotypes for gene: MYH9 were changed from DEAFNESS AUTOSOMAL DOMINANT TYPE 17 603622; SEBASTIAN SYNDROME 605249; MACROTHROMBOCYTOPENIA WITH PROGRESSIVE SENSORINEURAL DEAFNESS 600208; EPSTEIN SYNDROME 153650; MAY-HEGGLIN ANOMALY 155100; FECHTNER SYNDROME 153640 to DEAFNESS AUTOSOMAL DOMINANT TYPE 17 603622; SEBASTIAN SYNDROME 155100; MACROTHROMBOCYTOPENIA WITH PROGRESSIVE SENSORINEURAL DEAFNESS 155100; EPSTEIN SYNDROME 155100; MAY-HEGGLIN ANOMALY 155100; FECHTNER SYNDROME 155100 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.76 | SMAD4 | Rebecca Foulger commented on gene: SMAD4: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp. SMAD4 also rated 'confirmed' for MYHRE SYNDROME. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.63 | ADAR | Rebecca Foulger Added comment: Comment on mode of inheritance: DDG2P MOI is both monoallelic and biallelic for AICARDI-GOUTIERES SYNDROME ASSOCIATED WITH A TYPE I INTERFERON SIGNATURE; monoallelic for DYSCHROMATOSIS SYMMETRICA HEREDITARIA 1. Both disorders have a confirmed Disease confidence rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.52 | PIEZO2 | Rebecca Foulger Added comment: Comment on mode of inheritance: In DDG2P, MOI is listed as monoallelic for ARTHROGRYPOSIS, DISTAL, TYPE 3; biallelic for Ataxia, dysmetria, contractures & scoliosis with normal cognition but loss of discriminative touch perception. Both diseases have a confirmed Disease confidence rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.47 | NSDHL | Rebecca Foulger Added comment: Comment on mode of inheritance: In DDG2P, the MOI is recorded as hemizygous for CK SYNDROME and x-linked dominant for CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.37 | RNF13 |
Rebecca Foulger gene: RNF13 was added gene: RNF13 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: RNF13 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RNF13 were set to 30595371 Phenotypes for gene: RNF13 were set to Congenital Microcephaly Epileptic Encephalopathy Blindness and Failure to Thrive Mode of pathogenicity for gene: RNF13 was set to Other - please provide details in the comments |
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| DDG2P v1.37 | ADAMTS9 |
Rebecca Foulger gene: ADAMTS9 was added gene: ADAMTS9 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: ADAMTS9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADAMTS9 were set to 30609407 Phenotypes for gene: ADAMTS9 were set to Nephronophthisis Related Ciliopathy Mode of pathogenicity for gene: ADAMTS9 was set to Other - please provide details in the comments |
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| DDG2P v1.33 | TRAF7 | Rebecca Foulger commented on gene: TRAF7: Kept 'watchlist' tag when adding in new DD-G2P gene-disorder from March 2019; although DDG2P has multiple ratings (probable and confirmed), the three disorders are very similar (Developmental Delay Congenital Anomalies and Dysmorphic Features, Developmental Delay, Congenital Anomalies, and Dysmorphic Features, Developmental delay, congenital malformations and dysmorphism). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.25 | MYH3 | Rebecca Foulger Added comment: Comment on mode of inheritance: Although the newly-added disorder (Recessive Spondylocarpotarsal Synostosis Syndrome) has a biallelic MOI, I have kept the PanelApp MOI as 'monoallelic' to reflect the confirmed disease ratings (for DISTAL ARTHROGRYPOSIS TYPE 2A 193700 and DISTAL ARTHROGRYPOSIS TYPE 2B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.24 | MYH3 | Rebecca Foulger commented on gene: MYH3: Added 'watchlist' tag to reflect multiple ratings for different G2P disorders: confirmed for DISTAL ARTHROGRYPOSIS TYPE 2A, confirmed for DISTAL ARTHROGRYPOSIS TYPE 2B, probable for Recessive Spondylocarpotarsal Synostosis Syndrome (added to G2P in March 2019). Kept rating as Green to reflect highest Disease Confidence. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.23 | MYH3 | Rebecca Foulger Phenotypes for gene: MYH3 were changed from DISTAL ARTHROGRYPOSIS TYPE 2A 193700; DISTAL ARTHROGRYPOSIS TYPE 2B 601680 to DISTAL ARTHROGRYPOSIS TYPE 2A 193700; DISTAL ARTHROGRYPOSIS TYPE 2B 601680; Recessive Spondylocarpotarsal Synostosis Syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.9 | TTN | Rebecca Foulger commented on gene: TTN: PMID:28040389 (Fernández-Marmiesse et al 2017) report a newborn boy, first child of non-consanguineous parents with arthrogryposis multiplex congenita and severe axial hypotonia without cardiac involvement. The individual had a novel homozygous truncating variant c.38661_38665del in TTN, which is expressed only in the fetal skeletal isoform. A fetal ultrasound reported Clubfoot. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.9 | TTN | Rebecca Foulger commented on gene: TTN: PMID:29575618 (Chervinsky et al 2018) evaluate a consanguineous family of Moslem Bedouin origin with lethal congenital contracture syndrome and a homozygous c.36122delC (p. P12041Lfs*20) variant in TTN. 8 affected individuals (newborns and fetuses) were studied. Six of the affecteds were diagnosed prenatally by fetal ultrasound and two were diagnosed at birth. One pregnancy was complicated with fetal hydrops, and polyhydramnios was noted in at least three affecteds. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.8 | ASCC1 | Julia Baptista reviewed gene: ASCC1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26924529, 30327447, 28749478; Phenotypes: spinal muscular atrophy, arthrogryposis, fetal akinesia, hypotonia, contractures; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.95 | CHRNA2 | Rebecca Foulger commented on gene: CHRNA2: Kept rating as Amber to reflect DDG2P Disease confidence of 'child IF' for CHRNA2-RELATED NOCTURNAL FRONTAL LOBE EPILEPSY, AUTOSOMAL DOMINANT. CHRNA2 also rated 'possible' for NOCTURNAL FRONTAL LOBE EPILEPSY, AUTOSOMAL DOMINANT. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.95 | SMAD4 | Rebecca Foulger commented on gene: SMAD4: Changed rating to Amber to reflect DDG2P Disease confidence of 'both DD and IF' for JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME; JUVENILE POLYPOSIS SYNDROME. SMAD4 also rated 'confirmed' for MYHRE SYNDROME. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.95 | TIMM8A | Rebecca Foulger commented on gene: TIMM8A: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for JENSEN SYNDROME; MOHR-TRANEBJAERG SYNDROME. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.95 | MYH8 | Rebecca Foulger commented on gene: MYH8: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for CARNEY COMPLEX VARIANT; DISTAL ARTHROGRYPOSIS TYPE. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.95 | GJB3 | Rebecca Foulger commented on gene: GJB3: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA; DEAFNESS AUTOSOMAL DOMINANT TYPE 2B; DEAFNESS, AUTOSOMAL RECESSIVE. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.24 | NFIA | Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Amber to reflect DD-G2P update. Previously rated Amber based on a 'possible' DD-G2P rating for CHROMOSOME 1P32-P31 DELETION SYNDROME. Now (January 8th 2019) rated Probable for 'Macrocephaly with intellectual disability'. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.23 | NFIA | Rebecca Foulger Added comment: Comment on phenotypes: Updated phenotype to reflect DD-G2P update. Previous phenotype was CHROMOSOME 1P32-P31 DELETION SYNDROME 613735. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.23 | NFIA | Rebecca Foulger Phenotypes for gene: NFIA were changed from CHROMOSOME 1P32-P31 DELETION SYNDROME 613735 to Macrocephaly with intellectual disability | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.6 | NPHP3 | Rebecca Foulger Added comment: Comment on list classification: Updated rating to Green: Rating should have been Green in original fileupload since Original DDG2P rating is confirmed for all 3 DDG2P disorders; MECKEL SYNDROME TYPE 7 267010, RENAL-HEPATIC-PANCREATIC DYSPLASIA 208540 and NEPHRONOPHTHISIS TYPE 3 604387. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.4 | CHRNA2 | Rebecca Foulger Tag watchlist tag was added to gene: CHRNA2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.4 | CHRNA2 | Rebecca Foulger commented on gene: CHRNA2: Added watchlist tag to highlight different DD-G2P ratings for different gene:disorder associations. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TSHR | Rebecca Foulger reviewed gene: TSHR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | THRA | Rebecca Foulger reviewed gene: THRA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SHROOM3 | Rebecca Foulger reviewed gene: SHROOM3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | HRAS | Rebecca Foulger reviewed gene: HRAS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | HR | Rebecca Foulger reviewed gene: HR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | GHR | Rebecca Foulger reviewed gene: GHR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | DHRS3 | Rebecca Foulger reviewed gene: DHRS3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CHRNG | Rebecca Foulger reviewed gene: CHRNG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CHRNB2 | Rebecca Foulger reviewed gene: CHRNB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CHRNA4 | Rebecca Foulger reviewed gene: CHRNA4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CHRNA2 | Rebecca Foulger reviewed gene: CHRNA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CHRNA1 | Rebecca Foulger reviewed gene: CHRNA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CHRDL1 | Rebecca Foulger reviewed gene: CHRDL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | ZFPM2 |
Rebecca Foulger Added phenotypes DIAPHRAGMATIC HERNIA 3 610187 for gene: ZFPM2 Publications for gene ZFPM2 were changed from 24549039 to 16103912 |
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| DDG2P v0.1 | ZC4H2 | Rebecca Foulger Added phenotypes ARTHROGRYPOSIS MULTIPLEX CONGENITA AND INTELLECTUAL DISABILITY 314580 for gene: ZC4H2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | ZC4H2 |
Rebecca Foulger gene: ZC4H2 was added gene: ZC4H2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ZC4H2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: ZC4H2 were set to 4039531; 1915520; 23623388 Phenotypes for gene: ZC4H2 were set to ARTHROGRYPOSIS MULTIPLEX CONGENITA AND INTELLECTUAL DISABILITY 314580 |
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| DDG2P v0.1 | XPNPEP3 |
Rebecca Foulger gene: XPNPEP3 was added gene: XPNPEP3 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: XPNPEP3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: XPNPEP3 were set to 20179356 Phenotypes for gene: XPNPEP3 were set to NEPHRONOPHTHISIS-LIKE NEPHROPATHY TYPE 1 613159 |
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| DDG2P v0.1 | WNT7A |
Rebecca Foulger gene: WNT7A was added gene: WNT7A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: WNT7A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WNT7A were set to 9128926 Phenotypes for gene: WNT7A were set to FUHRMANN SYNDROME 228930 Mode of pathogenicity for gene: WNT7A was set to Other - please provide details in the comments |
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| DDG2P v0.1 | WDR73 |
Rebecca Foulger gene: WDR73 was added gene: WDR73 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: WDR73 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WDR73 were set to 25466283 Phenotypes for gene: WDR73 were set to GALLOWAY-MOWAT SYNDROME: MICROCEPHALY AND STEROID-RESISTANT NEPHROTIC SYNDROME |
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| DDG2P v0.1 | VPS33B |
Rebecca Foulger gene: VPS33B was added gene: VPS33B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: VPS33B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VPS33B were set to ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1 319164 |
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| DDG2P v0.1 | VIPAS39 |
Rebecca Foulger gene: VIPAS39 was added gene: VIPAS39 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: VIPAS39 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VIPAS39 were set to ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2 613404 |
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| DDG2P v0.1 | UROS |
Rebecca Foulger gene: UROS was added gene: UROS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: UROS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UROS were set to 7860775; 11254675; 19965637; 9834209; 1733834; 8946173; 12060141; 2331520 Phenotypes for gene: UROS were set to CONGENITAL ERYTHROPOIETIC PORPHYRIA 263700 |
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| DDG2P v0.1 | TWIST1 |
Rebecca Foulger gene: TWIST1 was added gene: TWIST1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TWIST1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TWIST1 were set to 8988167; 9259286; 8988166 Phenotypes for gene: TWIST1 were set to SAETHRE-CHOTZEN SYNDROME 101400 |
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| DDG2P v0.1 | TSHR |
Rebecca Foulger Added phenotypes HYPERTHYROIDISM, FAMILIAL GESTATIONAL 603373 for gene: TSHR Publications for gene TSHR were changed from 9329388; 7528344; 11095460; 9185526; 8954020; 10720030; 9589691; 12050212; 9100579 to 9854118 |
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| DDG2P v0.1 | TSHR |
Rebecca Foulger gene: TSHR was added gene: TSHR was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TSHR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: TSHR were set to 9329388; 7528344; 11095460; 9185526; 8954020; 10720030; 9589691; 12050212; 9100579 Phenotypes for gene: TSHR were set to HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1 275200 Mode of pathogenicity for gene: TSHR was set to Other - please provide details in the comments |
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| DDG2P v0.1 | TSHB |
Rebecca Foulger gene: TSHB was added gene: TSHB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TSHB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TSHB were set to 2792087 Phenotypes for gene: TSHB were set to HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4 275100 |
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| DDG2P v0.1 | TPM2 |
Rebecca Foulger gene: TPM2 was added gene: TPM2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TPM2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TPM2 were set to 12592607 Phenotypes for gene: TPM2 were set to ARTHROGRYPOSIS, DISTAL, TYPE 1 Mode of pathogenicity for gene: TPM2 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | TMEM67 |
Rebecca Foulger Added phenotypes NEPHRONOPHTHISIS TYPE 11 613550 for gene: TMEM67 Publications for gene TMEM67 were changed from 17377820; 16415887 to 19508969 |
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| DDG2P v0.1 | TIMM8A | Rebecca Foulger Added phenotypes MOHR-TRANEBJAERG SYNDROME 304700 for gene: TIMM8A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | THRA |
Rebecca Foulger gene: THRA was added gene: THRA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: THRA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: THRA were set to 22168587; 22494134 Phenotypes for gene: THRA were set to HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6 614450 |
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| DDG2P v0.1 | TCTN3 |
Rebecca Foulger gene: TCTN3 was added gene: TCTN3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TCTN3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TCTN3 were set to 22883145 Phenotypes for gene: TCTN3 were set to MOHR-MAJEWSKI SYNDROME 258860 |
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| DDG2P v0.1 | SON |
Rebecca Foulger gene: SON was added gene: SON was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SON was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SON were set to 27545680; 27545676 Phenotypes for gene: SON were set to Intellectual Disability, Congenital Malformations, and Failure to Thrive |
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| DDG2P v0.1 | SMAD4 |
Rebecca Foulger gene: SMAD4 was added gene: SMAD4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SMAD4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SMAD4 were set to MYHRE SYNDROME |
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| DDG2P v0.1 | SLC9A6 |
Rebecca Foulger gene: SLC9A6 was added gene: SLC9A6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC9A6 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: SLC9A6 were set to 20395263; 10528855; 18342287 Phenotypes for gene: SLC9A6 were set to MENTAL RETARDATION SYNDROMIC X-LINKED CHRISTIANSON TYPE 300243 |
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| DDG2P v0.1 | SLC6A9 |
Rebecca Foulger gene: SLC6A9 was added gene: SLC6A9 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SLC6A9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC6A9 were set to 27773429 Phenotypes for gene: SLC6A9 were set to Glycine Encephalopathy with Arthrogryposis |
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| DDG2P v0.1 | SLC25A24 |
Rebecca Foulger gene: SLC25A24 was added gene: SLC25A24 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC25A24 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SLC25A24 were set to 29100094; 29100093 Phenotypes for gene: SLC25A24 were set to Gorlin-Chaudhry-Moss syndrome (GCMS); Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction Mode of pathogenicity for gene: SLC25A24 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | SHROOM3 |
Rebecca Foulger gene: SHROOM3 was added gene: SHROOM3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SHROOM3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SHROOM3 were set to 25805808 Phenotypes for gene: SHROOM3 were set to NEURAL TUBE DEFECT |
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| DDG2P v0.1 | SEC23B |
Rebecca Foulger gene: SEC23B was added gene: SEC23B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SEC23B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SEC23B were set to 19561605; 19621418 Phenotypes for gene: SEC23B were set to ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II 224100 |
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| DDG2P v0.1 | SCO2 |
Rebecca Foulger gene: SCO2 was added gene: SCO2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SCO2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SCO2 were set to 10545952; 10749987; 18924171; 14994243 Phenotypes for gene: SCO2 were set to FATAL INFANTILE CARDIOENCEPHALOMYOPATHY DUE TO CYTOCHROME C OXIDASE DEFICIENCY 604377 |
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| DDG2P v0.1 | RUBCN |
Rebecca Foulger gene: RUBCN was added gene: RUBCN was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: RUBCN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RUBCN were set to SYNDROMIC MR WITH ATAXIA, DYSARTHRIA AND EPILEPSY Mode of pathogenicity for gene: RUBCN was set to Other - please provide details in the comments |
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| DDG2P v0.1 | RBM8A |
Rebecca Foulger gene: RBM8A was added gene: RBM8A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RBM8A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RBM8A were set to 22366785 Phenotypes for gene: RBM8A were set to THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME 274000 |
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| DDG2P v0.1 | RARB | Rebecca Foulger Added phenotypes MICROPHTHALMIA AND DIAPHRAGMATIC HERNIA for gene: RARB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | RARB |
Rebecca Foulger gene: RARB was added gene: RARB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RARB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: RARB were set to 24075189 Phenotypes for gene: RARB were set to MICROPHTHALMIA AND DIAPHRAGMATIC HERNIA |
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| DDG2P v0.1 | PLCE1 |
Rebecca Foulger gene: PLCE1 was added gene: PLCE1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PLCE1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLCE1 were set to 17086182; 20591883 Phenotypes for gene: PLCE1 were set to NEPHROTIC SYNDROME, TYPE 3 610725 |
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| DDG2P v0.1 | PIEZO2 |
Rebecca Foulger gene: PIEZO2 was added gene: PIEZO2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PIEZO2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: PIEZO2 were set to 24726473 Phenotypes for gene: PIEZO2 were set to ARTHROGRYPOSIS, DISTAL, TYPE 3 114300 |
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| DDG2P v0.1 | PDE6H |
Rebecca Foulger gene: PDE6H was added gene: PDE6H was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: PDE6H was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PDE6H were set to ACHROMATOPSIA |
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| DDG2P v0.1 | OSGEP |
Rebecca Foulger gene: OSGEP was added gene: OSGEP was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: OSGEP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OSGEP were set to 28805828 Phenotypes for gene: OSGEP were set to Nephrotic syndrome with primary microcephaly Mode of pathogenicity for gene: OSGEP was set to Other - please provide details in the comments |
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| DDG2P v0.1 | NUP107 |
Rebecca Foulger gene: NUP107 was added gene: NUP107 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NUP107 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NUP107 were set to 26411495 Phenotypes for gene: NUP107 were set to EARLY-CHILDHOOD-ONSET STEROID-RESISTANT NEPHROTIC SYNDROME |
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| DDG2P v0.1 | NSDHL |
Rebecca Foulger Added phenotypes CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS 308050 for gene: NSDHL Publications for gene NSDHL were changed from 19377476; 19842190 to 11907515; 10710235 |
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| DDG2P v0.1 | NPHS2 |
Rebecca Foulger gene: NPHS2 was added gene: NPHS2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NPHS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NPHS2 were set to 12464671; 8589695; 8606597; 10742096 Phenotypes for gene: NPHS2 were set to NEPHROTIC SYNDROME, TYPE 2 600995 |
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| DDG2P v0.1 | NPHS1 |
Rebecca Foulger gene: NPHS1 was added gene: NPHS1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NPHS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NPHS1 were set to 17290294; 11854170; 10577936; 9660941; 10652016 Phenotypes for gene: NPHS1 were set to NEPHROTIC SYNDROME TYPE 1 256300 |
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| DDG2P v0.1 | NPHP4 |
Rebecca Foulger gene: NPHP4 was added gene: NPHP4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NPHP4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NPHP4 were set to 12244321 Phenotypes for gene: NPHP4 were set to NEPHRONOPHTHISIS TYPE 4 606966 |
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| DDG2P v0.1 | NPHP3 |
Rebecca Foulger Added phenotypes NEPHRONOPHTHISIS TYPE 3 604387 for gene: NPHP3 Publications for gene NPHP3 were changed from to 19303681; 12872122 |
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| DDG2P v0.1 | NPHP1 |
Rebecca Foulger Added phenotypes NEPHRONOPHTHISIS TYPE 1 256100 for gene: NPHP1 Publications for gene NPHP1 were changed from to 9326933; 10839884; 8852662; 9382140 |
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| DDG2P v0.1 | NFIA |
Rebecca Foulger gene: NFIA was added gene: NFIA was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: NFIA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NFIA were set to 17530927 Phenotypes for gene: NFIA were set to CHROMOSOME 1P32-P31 DELETION SYNDROME 613735 |
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| DDG2P v0.1 | NEK8 |
Rebecca Foulger gene: NEK8 was added gene: NEK8 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: NEK8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NEK8 were set to 18199800 Phenotypes for gene: NEK8 were set to NEPHRONOPHTHISIS 9 613824 |
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| DDG2P v0.1 | MYH9 | Rebecca Foulger Added phenotypes MACROTHROMBOCYTOPENIA WITH PROGRESSIVE SENSORINEURAL DEAFNESS 600208 for gene: MYH9 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | MYH8 | Rebecca Foulger Added phenotypes DISTAL ARTHROGRYPOSIS TYPE 158300 for gene: MYH8 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | MYH3 |
Rebecca Foulger Added phenotypes DISTAL ARTHROGRYPOSIS TYPE 2A 193700 for gene: MYH3 Publications for gene MYH3 were changed from 16642020; 18695058 to 16642020 |
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| DDG2P v0.1 | MYH3 |
Rebecca Foulger gene: MYH3 was added gene: MYH3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MYH3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MYH3 were set to 16642020; 18695058 Phenotypes for gene: MYH3 were set to DISTAL ARTHROGRYPOSIS TYPE 2B 601680 Mode of pathogenicity for gene: MYH3 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | MECP2 |
Rebecca Foulger Added phenotypes CHROMOSOME XQ28 DUPLICATION SYNDROME 300815 for gene: MECP2 Publications for gene MECP2 were changed from 9377804; 12615169; 16966553; 10232754; 11007980; 11807877 to 29618507 |
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| DDG2P v0.1 | MECOM |
Rebecca Foulger gene: MECOM was added gene: MECOM was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: MECOM was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MECOM were set to 26581901 Phenotypes for gene: MECOM were set to Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia Mode of pathogenicity for gene: MECOM was set to Other - please provide details in the comments |
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| DDG2P v0.1 | MAGEL2 |
Rebecca Foulger Added phenotypes ARTHROGRYPOSIS MULTIPLEX CONGENITA for gene: MAGEL2 Publications for gene MAGEL2 were changed from 27195816; 24076603 to 26365340 |
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| DDG2P v0.1 | LGI4 |
Rebecca Foulger gene: LGI4 was added gene: LGI4 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: LGI4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LGI4 were set to 28318499 Phenotypes for gene: LGI4 were set to ARTHROGRYPOSIS MULTIPLEX CONGENITA |
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| DDG2P v0.1 | KLF1 |
Rebecca Foulger gene: KLF1 was added gene: KLF1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KLF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KLF1 were set to 21055716 Phenotypes for gene: KLF1 were set to ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE IV 613673 Mode of pathogenicity for gene: KLF1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | KANSL1 |
Rebecca Foulger gene: KANSL1 was added gene: KANSL1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KANSL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KANSL1 were set to 22544367; 22544363 Phenotypes for gene: KANSL1 were set to CHROMOSOME 17Q21.31 MICRODELETION SYNDROME 610443 |
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| DDG2P v0.1 | ITGA3 |
Rebecca Foulger gene: ITGA3 was added gene: ITGA3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ITGA3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ITGA3 were set to 22512483 Phenotypes for gene: ITGA3 were set to INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL 614748 |
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| DDG2P v0.1 | IGF2 |
Rebecca Foulger gene: IGF2 was added gene: IGF2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: IGF2 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) Publications for gene: IGF2 were set to 26154720 Phenotypes for gene: IGF2 were set to CHROMOSOME 11P15.5-RELATED RUSSELL-SILVER SYNDROME 180860 |
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| DDG2P v0.1 | HRAS | Rebecca Foulger Added phenotypes CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES 218040 for gene: HRAS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | HRAS |
Rebecca Foulger gene: HRAS was added gene: HRAS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HRAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: HRAS were set to 17468812; 18247425; 16835863; 17412879; 16443854; 17056636; 18039947; 17054105; 19995790; 16170316 Phenotypes for gene: HRAS were set to COSTELLO SYNDROME 218040 Mode of pathogenicity for gene: HRAS was set to Other - please provide details in the comments |
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| DDG2P v0.1 | HR |
Rebecca Foulger Added phenotypes ATRICHIA WITH PAPULAR LESIONS 209500 for gene: HR Publications for gene HR were changed from 19897589; 10777357; 17680008 to 9856480; 10469319; 10205263; 12271294; 10051399 |
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| DDG2P v0.1 | HR |
Rebecca Foulger gene: HR was added gene: HR was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HR were set to 19897589; 10777357; 17680008 Phenotypes for gene: HR were set to ALOPECIA UNIVERSALIS 146550 |
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| DDG2P v0.1 | HPGD |
Rebecca Foulger gene: HPGD was added gene: HPGD was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HPGD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HPGD were set to CRANIOOSTEOARTHROPATHY 259100 |
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| DDG2P v0.1 | HOXA11 |
Rebecca Foulger gene: HOXA11 was added gene: HOXA11 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: HOXA11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: HOXA11 were set to 26581901 Phenotypes for gene: HOXA11 were set to Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia |
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| DDG2P v0.1 | GLIS2 |
Rebecca Foulger gene: GLIS2 was added gene: GLIS2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: GLIS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GLIS2 were set to 17618285 Phenotypes for gene: GLIS2 were set to NEPHRONOPHTHISIS 7 611498 |
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| DDG2P v0.1 | GLE1 |
Rebecca Foulger gene: GLE1 was added gene: GLE1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GLE1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GLE1 were set to 18204449 Phenotypes for gene: GLE1 were set to ARTHROGRYPOSIS, LETHAL, WITH ANTERIOR HORN CELL DISEASE 611890 Mode of pathogenicity for gene: GLE1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | GLDN |
Rebecca Foulger gene: GLDN was added gene: GLDN was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: GLDN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GLDN were set to 27616481 Phenotypes for gene: GLDN were set to Lethal arthroogryposis |
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| DDG2P v0.1 | GJB3 |
Rebecca Foulger gene: GJB3 was added gene: GJB3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GJB3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: GJB3 were set to ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 133200 |
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| DDG2P v0.1 | GJB2 |
Rebecca Foulger Added phenotypes BART-PUMPHREY SYNDROME 149200 for gene: GJB2 Publications for gene GJB2 were changed from 12372058; 10633135; 17993581; 2956987 to 15952212; 15482471 |
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| DDG2P v0.1 | GHR |
Rebecca Foulger gene: GHR was added gene: GHR was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GHR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GHR were set to 9360529; 12679461; 15001620; 2813379; 17405847; 15536163; 2779634; 8488849; 11468686; 8626815; 9851797; 9661642; 2233903; 9467570 Phenotypes for gene: GHR were set to PITUITARY DWARFISM II 262500 |
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| DDG2P v0.1 | GATA6 |
Rebecca Foulger Added phenotypes PANCREATIC AGENESIS, DIAPHRAGMATIC HERNIA AND CONGENITAL HEART DEFECTS 600001 for gene: GATA6 Publications for gene GATA6 were changed from 20581743 to 22158542; 8071961 |
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| DDG2P v0.1 | ECEL1 |
Rebecca Foulger gene: ECEL1 was added gene: ECEL1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ECEL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ECEL1 were set to 23261301 Phenotypes for gene: ECEL1 were set to DISTAL ARTHROGRYPOSIS TYPE 5D 615065 |
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| DDG2P v0.1 | DHRS3 |
Rebecca Foulger gene: DHRS3 was added gene: DHRS3 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: DHRS3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DHRS3 were set to DHRS3 related craniosynostosis Mode of pathogenicity for gene: DHRS3 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | CTNS |
Rebecca Foulger Added phenotypes CYSTINOSIS LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE 219900 for gene: CTNS Publications for gene CTNS were changed from 9792862; 9537412; 11505338; 10556299; 12442267; 11565547; 10673275 to 19863563; 10556299; 10444339 |
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| DDG2P v0.1 | CTNS |
Rebecca Foulger Added phenotypes CYSTINOSIS NEPHROPATHIC TYPE 219800 for gene: CTNS Publications for gene CTNS were changed from 10625078; 11505338 to 9792862; 9537412; 11505338; 10556299; 12442267; 11565547; 10673275 |
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| DDG2P v0.1 | CTNS |
Rebecca Foulger gene: CTNS was added gene: CTNS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CTNS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CTNS were set to 10625078; 11505338 Phenotypes for gene: CTNS were set to CYSTINOSIS ADULT NON-NEPHROPATHIC TYPE 219750 |
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| DDG2P v0.1 | CHRNG |
Rebecca Foulger gene: CHRNG was added gene: CHRNG was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CHRNG was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CHRNG were set to 16826520 Phenotypes for gene: CHRNG were set to MULTIPLE PTERYGIUM SYNDROME ESCOBAR VARIANT 265000 |
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| DDG2P v0.1 | CHRNB2 |
Rebecca Foulger Added phenotypes NOCTURNAL FRONTAL LOBE EPILEPSY, AUTOSOMAL DOMINANT 117426 for gene: CHRNB2 Publications for gene CHRNB2 were changed from to 11062464 |
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| DDG2P v0.1 | CHRNB2 |
Rebecca Foulger gene: CHRNB2 was added gene: CHRNB2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: CHRNB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CHRNB2 were set to CHRNB2-RELATED NOCTURNAL FRONTAL LOBE EPILEPSY, AUTOSOMAL DOMINANT 605375 Mode of pathogenicity for gene: CHRNB2 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | CHRNA4 |
Rebecca Foulger gene: CHRNA4 was added gene: CHRNA4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CHRNA4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CHRNA4 were set to 7647781 Phenotypes for gene: CHRNA4 were set to NOCTURNAL FRONTAL LOBE EPILEPSY TYPE 1 600513 Mode of pathogenicity for gene: CHRNA4 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | CHRNA2 | Rebecca Foulger Added phenotypes NOCTURNAL FRONTAL LOBE EPILEPSY, AUTOSOMAL DOMINANT 117426 for gene: CHRNA2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | CHRNA2 |
Rebecca Foulger gene: CHRNA2 was added gene: CHRNA2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: CHRNA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CHRNA2 were set to CHRNA2-RELATED NOCTURNAL FRONTAL LOBE EPILEPSY, AUTOSOMAL DOMINANT 291607 Mode of pathogenicity for gene: CHRNA2 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | CHRNA1 |
Rebecca Foulger gene: CHRNA1 was added gene: CHRNA1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: CHRNA1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CHRNA1 were set to MULTIPLE PTERYGIUM SYNDROME LETHAL TYPE 253290 |
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| DDG2P v0.1 | CHRDL1 |
Rebecca Foulger gene: CHRDL1 was added gene: CHRDL1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CHRDL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: CHRDL1 were set to 22284829 Phenotypes for gene: CHRDL1 were set to MEGALOCORNEA, X-LINKED 309300 |
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| DDG2P v0.1 | CEP83 |
Rebecca Foulger gene: CEP83 was added gene: CEP83 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CEP83 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CEP83 were set to 24882706 Phenotypes for gene: CEP83 were set to INFANTILE NEPHRONOPHTHISIS AND INTELLECTUAL DISABILITY |
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| DDG2P v0.1 | CD151 |
Rebecca Foulger gene: CD151 was added gene: CD151 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: CD151 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CD151 were set to 15265795 Phenotypes for gene: CD151 were set to NEPHROPATHY WITH PRETIBIAL EPIDERMOLYSIS BULLOSA AND DEAFNESS 609057 |
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| DDG2P v0.1 | CCDC8 |
Rebecca Foulger gene: CCDC8 was added gene: CCDC8 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: CCDC8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CCDC8 were set to 21737058 Phenotypes for gene: CCDC8 were set to THREE M SYNDROME 3 614205 |
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| DDG2P v0.1 | ASXL1 |
Rebecca Foulger gene: ASXL1 was added gene: ASXL1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ASXL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ASXL1 were set to 21706002; 22419483 Phenotypes for gene: ASXL1 were set to BOHRING-OPITZ SYNDROME 605039 |
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| DDG2P v0.1 | ANKRD26 |
Rebecca Foulger gene: ANKRD26 was added gene: ANKRD26 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: ANKRD26 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ANKRD26 were set to 21211618; 10521306 Phenotypes for gene: ANKRD26 were set to THROMBOCYTOPENIA 2 188000 Mode of pathogenicity for gene: ANKRD26 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | ADAR |
Rebecca Foulger gene: ADAR was added gene: ADAR was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ADAR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: ADAR were set to 12916015; 16935814; 17478391; 16817193 Phenotypes for gene: ADAR were set to DYSCHROMATOSIS SYMMETRICA HEREDITARIA 1 127400 |
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