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| 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 v3.11 | 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 v1.64 | ADAR | Rebecca Foulger Added comment: Comment on mode of inheritance: DDG2P MOI is biallelic for SPONDYLOEPIMETAPHYSEAL DYSPLASIA AGGRECAN TYPE; monoallelic for SPONDYLOEPIPHYSEAL DYSPLASIA TYPE KIMBERLEY. Both disorders have a confirmed Disease confidence rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 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 v1.63 | 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 v0.2 | ADAR | Rebecca Foulger reviewed gene: ADAR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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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