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Vascular skin disorders v1.46 | ATR | Ivone Leong Phenotypes for gene: ATR were changed from Cutaneous telangiectasia and cancer syndrome to ?Cutaneous telangiectasia and cancer syndrome, familial, OMIM:614564 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Vascular skin disorders v0.29 | ATR | Catherine Snow Publications for gene: ATR were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Vascular skin disorders v0.25 | ATR | Catherine Snow Classified gene: ATR as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Vascular skin disorders v0.25 | ATR | Catherine Snow Added comment: Comment on list classification: ATR classified as Amber, associated publication is based on just one family, no further reports of gene disease relationship at this time. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Vascular skin disorders v0.25 | ATR | Catherine Snow Gene: atr has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Vascular skin disorders v0.24 | ATR | Tom Cullup reviewed gene: ATR: Rating: AMBER; Mode of pathogenicity: ; Publications: 22341969; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Vascular skin disorders v0.23 | SCN9A | Catherine Snow Added comment: Comment on mode of inheritance: Following advice from Tom Cullup (GOSH) ATR MOI was changed to Monoallelic | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Vascular skin disorders v0.22 | ATR | Catherine Snow Added comment: Comment on mode of inheritance: Following advice from Tom Cullup (GOSH) ATR MOI was changed to Monoallelic | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Vascular skin disorders v0.22 | ATR | Catherine Snow Mode of inheritance for gene: ATR was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Vascular skin disorders v0.5 | ATR | Rebecca Foulger Source London North GLH was added to ATR. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Vascular skin disorders v0.4 | ATR | Rebecca Foulger reviewed gene: ATR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Vascular skin disorders v0.3 | ATR |
Rebecca Foulger gene: ATR was added gene: ATR was added to Vascular skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ATR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: ATR were set to Cutaneous telangiectasia and cancer syndrome |