Activity

Filter

Cancel
Date Panel Item Activity
8 actions
Vascular skin disorders v1.4 GNAQ Arina Puzriakova Tag curated_removed tag was added to gene: GNAQ.
Vascular skin disorders v0.38 GNAQ Catherine Snow Classified gene: GNAQ as No list
Vascular skin disorders v0.38 GNAQ Catherine Snow Added comment: Comment on list classification: Following advice from Tom Cullup of GOSH "test on this not fit for purpose as only v.low level mosaicism. To be fulfilled by mosaic panel."
Vascular skin disorders v0.38 GNAQ Catherine Snow Gene: gnaq has been removed from the panel.
Vascular skin disorders v0.24 GNAQ Tom Cullup reviewed gene: GNAQ: Rating: GREEN; Mode of pathogenicity: ; Publications: 26778290; Phenotypes: ; Mode of inheritance:
Vascular skin disorders v0.5 GNAQ Rebecca Foulger Source London North GLH was added to GNAQ.
Vascular skin disorders v0.4 GNAQ Rebecca Foulger reviewed gene: GNAQ: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Vascular skin disorders v0.3 GNAQ Rebecca Foulger gene: GNAQ was added
gene: GNAQ was added to Vascular skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: GNAQ was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GNAQ were set to Phakomatosis pigmentovascularis; Extensive dermal melanocytosis; Sturge Weber syndrome