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| DDG2P v3.73 | ADAMTS9 | Eleanor Williams commented on gene: ADAMTS9 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.73 | ADAMTS9 | Eleanor Williams Tag gene-checked tag was added to gene: ADAMTS9. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | STRADA | Achchuthan Shanmugasundram reviewed gene: STRADA: Rating: GREEN; Mode of pathogenicity: ; Publications: 27170158, 33247513, 17522105, 30311510; Phenotypes: Polyhydramnios, megalencephaly, and symptomatic epilepsy, OMIM:611087; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SCN1B | Achchuthan Shanmugasundram reviewed gene: SCN1B: Rating: GREEN; Mode of pathogenicity: ; Publications: 17020904, 9697698, 12011299, 18464934; Phenotypes: BRUGADA SYNDROME 5, OMIM:612838; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RBPJ | Achchuthan Shanmugasundram reviewed gene: RBPJ: Rating: GREEN; Mode of pathogenicity: Other; Publications: 22883147; Phenotypes: ADAMS OLIVER SYNDROME; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EOGT | Achchuthan Shanmugasundram reviewed gene: EOGT: Rating: GREEN; Mode of pathogenicity: ; Publications: 23522784; Phenotypes: ADAMS OLIVER SYNDROME; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DOCK6 | Achchuthan Shanmugasundram reviewed gene: DOCK6: Rating: GREEN; Mode of pathogenicity: ; Publications: 21820096; Phenotypes: ADAMS-OLIVER SYNDROME 2, OMIM:614219; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DLL4 | Achchuthan Shanmugasundram reviewed gene: DLL4: Rating: GREEN; Mode of pathogenicity: ; Publications: 26299364; Phenotypes: ADAMS-OLIVER SYNDROME 6, OMIM:616589; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ARHGAP31 | Achchuthan Shanmugasundram reviewed gene: ARHGAP31: Rating: GREEN; Mode of pathogenicity: ; Publications: 16451141, 474617; Phenotypes: ADAMS-OLIVER SYNDROME 1, OMIM:100300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ADARB1 | Achchuthan Shanmugasundram reviewed gene: ADARB1: Rating: RED; Mode of pathogenicity: Other; Publications: 32220291; Phenotypes: ADARB1-associated Microcephaly, Intellectual Disability, and Seizures; 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 | ADAMTSL2 | Achchuthan Shanmugasundram reviewed gene: ADAMTSL2: Rating: GREEN; Mode of pathogenicity: ; Publications: 18677313, 21415077; Phenotypes: GELEOPHYSIC DYSPLASIA 1; Mode of inheritance: 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 v3.12 | ADAMTS18 | Achchuthan Shanmugasundram reviewed gene: ADAMTS18: Rating: GREEN; Mode of pathogenicity: ; Publications: 24874986, 23818446, 22686506; Phenotypes: Microcornea, myopic chorioretinal atrophy, and telecanthus, OMIM:615458; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ADAM22 | Achchuthan Shanmugasundram reviewed gene: ADAM22: Rating: GREEN; Mode of pathogenicity: ; Publications: 35373813; Phenotypes: ADAM22-associated developmental and epileptic encephalopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ADA | Achchuthan Shanmugasundram reviewed gene: ADA: Rating: GREEN; Mode of pathogenicity: ; Publications: 8227344, 9225964, 46025, 21228398, 3684597, 3475710, 2783588, 9361033, 8673127, 11807006, 980079, 3839802, 8614422, 2166947, 1680289, 8031011, 3182793; Phenotypes: ADENOSINE DEAMINASE DEFICIENCY, OMIM:102700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | STRADA |
Achchuthan Shanmugasundram gene: STRADA was added gene: STRADA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: STRADA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: STRADA were set to 27170158; 33247513; 17522105; 30311510 Phenotypes for gene: STRADA were set to Polyhydramnios, megalencephaly, and symptomatic epilepsy, OMIM:611087 |
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| DDG2P v3.11 | ADARB1 |
Achchuthan Shanmugasundram gene: ADARB1 was added gene: ADARB1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: ADARB1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADARB1 were set to 32220291 Phenotypes for gene: ADARB1 were set to ADARB1-associated Microcephaly, Intellectual Disability, and Seizures Mode of pathogenicity for gene: ADARB1 was set to Other |
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| DDG2P v3.11 | ADAR | Achchuthan Shanmugasundram Publications for gene: ADAR were updated from 23001123 to 16935814; 23001123; 17478391; 24262145; 16817193; 12916015 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | ADAMTSL2 |
Achchuthan Shanmugasundram gene: ADAMTSL2 was added gene: ADAMTSL2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ADAMTSL2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADAMTSL2 were set to 18677313; 21415077 Phenotypes for gene: ADAMTSL2 were set to GELEOPHYSIC DYSPLASIA 1 |
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| DDG2P v3.11 | ADAMTS9 |
Achchuthan Shanmugasundram Source Expert Review Green was added to ADAMTS9. Mode of pathogenicity for gene ADAMTS9 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 | ADAMTS18 |
Achchuthan Shanmugasundram Source Expert Review Green was added to ADAMTS18. Publications for gene: ADAMTS18 were updated from 21862674 to 24874986; 21862674; 23818446; 22686506 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| DDG2P v3.11 | ADAM22 |
Achchuthan Shanmugasundram gene: ADAM22 was added gene: ADAM22 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ADAM22 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADAM22 were set to 35373813 Phenotypes for gene: ADAM22 were set to ADAM22-associated developmental and epileptic encephalopathy |
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| DDG2P v3.11 | ADA | Achchuthan Shanmugasundram Publications for gene: ADA were updated from 11807006; 8227344; 2783588; 1680289; 21228398; 980079; 8614422; 3182793; 3684597; 3475710; 8031011; 2166947; 9361033; 46025; 3839802; 9225964; 8673127 to 8227344; 9225964; 46025; 21228398; 8031011; 3684597; 3475710; 2783588; 9361033; 8673127; 11807006; 980079; 2166947; 8614422; 1680289; 3839802; 3182793 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.64 | ADAR | Rebecca Foulger Mode of inheritance for gene: ADAR was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.63 | ADAR | Rebecca Foulger Mode of inheritance for gene: ADAR was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.38 | ADAMTS9 | Rebecca Foulger reviewed gene: ADAMTS9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 v0.2 | ADAR | Rebecca Foulger reviewed gene: ADAR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ADAMTS18 | Rebecca Foulger reviewed gene: ADAMTS18: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ADA | Rebecca Foulger reviewed gene: ADA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | ZFPM2 |
Rebecca Foulger gene: ZFPM2 was added gene: ZFPM2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: ZFPM2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ZFPM2 were set to 24549039 Phenotypes for gene: ZFPM2 were set to 46,XY GONADAL DYSGENESIS |
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| DDG2P v0.1 | SCN1B |
Rebecca Foulger Added phenotypes BRUGADA SYNDROME 5 612838 for gene: SCN1B Publications for gene SCN1B were changed from 9697698 to 18464934 |
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| DDG2P v0.1 | RBPJ |
Rebecca Foulger gene: RBPJ was added gene: RBPJ was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: RBPJ was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RBPJ were set to 22883147 Phenotypes for gene: RBPJ were set to ADAMS OLIVER SYNDROME Mode of pathogenicity for gene: RBPJ was set to Other - please provide details in the comments |
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| DDG2P v0.1 | NOTCH1 |
Rebecca Foulger Added phenotypes ADAMS OLIVER SYNDROME for gene: NOTCH1 Publications for gene NOTCH1 were changed from 16025100 to 25132448 |
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| DDG2P v0.1 | EOGT |
Rebecca Foulger gene: EOGT was added gene: EOGT was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: EOGT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EOGT were set to 23522784 Phenotypes for gene: EOGT were set to ADAMS OLIVER SYNDROME |
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| DDG2P v0.1 | DOCK6 |
Rebecca Foulger gene: DOCK6 was added gene: DOCK6 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: DOCK6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DOCK6 were set to 21820096 Phenotypes for gene: DOCK6 were set to ADAMS-OLIVER SYNDROME 2 614219 |
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| DDG2P v0.1 | DLL4 |
Rebecca Foulger gene: DLL4 was added gene: DLL4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DLL4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DLL4 were set to 26299364 Phenotypes for gene: DLL4 were set to ADAMS-OLIVER SYNDROME 6 616589 |
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| DDG2P v0.1 | ARHGAP31 |
Rebecca Foulger gene: ARHGAP31 was added gene: ARHGAP31 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: ARHGAP31 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ARHGAP31 were set to 16451141; 474617 Phenotypes for gene: ARHGAP31 were set to ADAMS-OLIVER SYNDROME 1 100300 |
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| DDG2P v0.1 | ADAR | Rebecca Foulger Added phenotypes AICARDI-GOUTIERES SYNDROME ASSOCIATED WITH A TYPE I INTERFERON SIGNATURE 615010 for gene: ADAR | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | ADAR |
Rebecca Foulger Added phenotypes AICARDI-GOUTIERES SYNDROME ASSOCIATED WITH A TYPE I INTERFERON SIGNATURE 615010 for gene: ADAR Publications for gene ADAR were changed from 12916015; 16935814; 17478391; 16817193 to 23001123 |
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| DDG2P v0.1 | ADAR |
Rebecca Foulger gene: ADAR was added gene: ADAR was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ADAR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: ADAR were set to 12916015; 16935814; 17478391; 16817193 Phenotypes for gene: ADAR were set to DYSCHROMATOSIS SYMMETRICA HEREDITARIA 1 127400 |
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| DDG2P v0.1 | ADAMTS18 |
Rebecca Foulger gene: ADAMTS18 was added gene: ADAMTS18 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: ADAMTS18 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADAMTS18 were set to 21862674 Phenotypes for gene: ADAMTS18 were set to KNOBLOCH SYNDROME 2 608454 Mode of pathogenicity for gene: ADAMTS18 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | ADA |
Rebecca Foulger gene: ADA was added gene: ADA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ADA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADA were set to 11807006; 8227344; 2783588; 1680289; 21228398; 980079; 8614422; 3182793; 3684597; 3475710; 8031011; 2166947; 9361033; 46025; 3839802; 9225964; 8673127 Phenotypes for gene: ADA were set to ADENOSINE DEAMINASE DEFICIENCY 102700 |
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