| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mosaic skin disorders v0.38 | GNAQ | Zornitza Stark Tag somatic tag was added to gene: GNAQ. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders v0.3 | GNAQ | Zornitza Stark Marked gene: GNAQ as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders v0.3 | GNAQ | Zornitza Stark Gene: gnaq has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders v0.3 | GNAQ | Zornitza Stark reviewed gene: GNAQ: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Extensive dermal melanocytosis, Sturge Weber syndrome, Phakomatosis pigmentovascularis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders v0.1 | GNAQ | Mathew Wallis reviewed gene: GNAQ: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26778290; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders v0.1 | GNAQ | Mathew Wallis Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders v0.1 | GNAQ | Mathew Wallis reviewed gene: GNAQ: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: PMID: 26778290; Phenotypes: Sturge Weber syndrome, Phakomatosis pigmentovascularis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders v0.0 | GNAQ |
Zornitza Stark gene: GNAQ was added gene: GNAQ was added to Mosaic skin disorders. Sources: Expert Review Green,NHS GMS,Genomics England PanelApp Mode of inheritance for gene: GNAQ was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GNAQ were set to 26778290 Phenotypes for gene: GNAQ were set to Extensive dermal melanocytosis; Sturge Weber syndrome; Phakomatosis pigmentovascularis |
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