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Vascular skin disorders v0.24 ENG Tom Cullup reviewed gene: ENG: Rating: GREEN; Mode of pathogenicity: ; Publications: 7894484; Phenotypes: ; Mode of inheritance:
Vascular skin disorders v0.5 ENG Rebecca Foulger Source London North GLH was added to ENG.
Vascular skin disorders v0.4 ENG Rebecca Foulger reviewed gene: ENG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Vascular skin disorders v0.3 ENG Rebecca Foulger gene: ENG was added
gene: ENG was added to Vascular skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ENG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ENG were set to Hereditary haemorrhagic telengiectasia
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
Vascular skin disorders v0.3 ACVRL1 Rebecca Foulger gene: ACVRL1 was added
gene: ACVRL1 was added to Vascular skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ACVRL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ACVRL1 were set to Hereditary haemorrhagic telengiectasia