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| Ectodermal Dysplasia v0.55 | ANAPC1 | Zornitza Stark Phenotypes for gene: ANAPC1 were changed from Rothmund-Thomson syndrome, type 1 MIM#618625 to Rothmund-Thomson syndrome, type 1 MIM#618625; MONDO:0016368 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal Dysplasia v0.54 | ANAPC1 | Zornitza Stark Tag deep intronic tag was added to gene: ANAPC1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal Dysplasia v0.54 | ANAPC1 | Zornitza Stark reviewed gene: ANAPC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31303264; Phenotypes: Rothmund Thomson syndrome type 1, #MIM:618625, MONDO:0016368; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal Dysplasia v0.50 | ANAPC1 | Bryony Thompson Marked gene: ANAPC1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal Dysplasia v0.50 | ANAPC1 | Bryony Thompson Gene: anapc1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal Dysplasia v0.50 | ANAPC1 | Bryony Thompson Classified gene: ANAPC1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal Dysplasia v0.50 | ANAPC1 | Bryony Thompson Gene: anapc1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal Dysplasia v0.49 | ANAPC1 |
Bryony Thompson gene: ANAPC1 was added gene: ANAPC1 was added to Ectodermal Dysplasia. Sources: NHS GMS Mode of inheritance for gene: ANAPC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ANAPC1 were set to 31303264 Phenotypes for gene: ANAPC1 were set to Rothmund-Thomson syndrome, type 1 MIM#618625 Review for gene: ANAPC1 was set to GREEN Added comment: 7 cases from 5 families with biallelic variants (3 different variants) have at least 2 ectodermal features as part of the phenotype. Sources: NHS GMS |
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