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Vascular skin disorders v1.12 | ATM | Ivone Leong Phenotypes for gene: ATM were changed from Ataxia telengiectasia to Ataxia telengiectasia, OMIM:208900 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Vascular skin disorders v1.11 | ATM | Ivone Leong Publications for gene: ATM were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Vascular skin disorders v0.24 | ATM | Tom Cullup reviewed gene: ATM: Rating: GREEN; Mode of pathogenicity: ; Publications: 7792600; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Vascular skin disorders v0.6 | ATM | Rebecca Foulger Added comment: Comment on mode of inheritance: On advice from Anna de Burca and Ellen Thomas, changed MOI from 'both monoallelic and biallelic' to 'biallelic' only to match OMIM, which lists AR inheritance for 'Ataxia-telangiectasia, 208900'. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Vascular skin disorders v0.6 | ATM | Rebecca Foulger Mode of inheritance for gene: ATM was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Vascular skin disorders v0.5 | ATM | Rebecca Foulger Source London North GLH was added to ATM. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Vascular skin disorders v0.4 | ATM | Rebecca Foulger reviewed gene: ATM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Vascular skin disorders v0.3 | ATM |
Rebecca Foulger gene: ATM was added gene: ATM was added to Vascular skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ATM was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: ATM were set to Ataxia telengiectasia |