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| DDG2P v3.12 | EDAR | Achchuthan Shanmugasundram reviewed gene: EDAR: Rating: GREEN; Mode of pathogenicity: ; Publications: 10431241, 16435307, 20979233; Phenotypes: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, OMIM:224900, ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | EDAR | Achchuthan Shanmugasundram Publications for gene: EDAR were updated from to 10431241; 16435307; 20979233 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.175 | EDAR | Rebecca Foulger Added comment: Comment on phenotypes: Added new DDG2P disorder to phenotypes: ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT;Ectodermal dysplasia 10B. DDG2P rating: confirmed. Allelic requirement: monoallelic. Mutation consequence: dominant negative. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.175 | EDAR | Rebecca Foulger Phenotypes for gene: EDAR were changed from Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive to ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT; Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.174 | EDAR | Rebecca Foulger Added comment: Comment on mode of inheritance: Updated MOI from 'BIALLELIC' to 'BOTH AD+AR' to match recent DDG2P update, and to be consistent with OMIM. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.174 | EDAR | Rebecca Foulger Mode of inheritance for gene: EDAR was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.90 | EDAR | Rebecca Foulger Added comment: Comment on mode of inheritance: At the time of curation, no MOI is listed in DD-G2P for EDAR. Note that in OMIM, Ectodermal dysplasia is associated with both recessive (MIM:224900) and dominant (MIM:129490) inheritance. However, have set MOI to 'biallelic' to match the current DD-G2P disorder name (Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.90 | EDAR | Rebecca Foulger Mode of inheritance for gene: EDAR was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | EDAR | Rebecca Foulger reviewed gene: EDAR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | EDAR |
Rebecca Foulger gene: EDAR was added gene: EDAR was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: EDAR was set to Phenotypes for gene: EDAR were set to Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive |
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