| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mosaic skin disorders v0.3 | GNA14 | Zornitza Stark Marked gene: GNA14 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders v0.3 | GNA14 | Zornitza Stark Gene: gna14 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders v0.3 | GNA14 | Zornitza Stark Tag somatic tag was added to gene: GNA14. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders v0.3 | GNA14 | Zornitza Stark reviewed gene: GNA14: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Kaposiform endothelioma, Tufted angioma; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders v0.1 | GNA14 | Mathew Wallis reviewed gene: GNA14: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27476652; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders v0.1 | GNA14 | Mathew Wallis Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders v0.1 | GNA14 | Mathew Wallis reviewed gene: GNA14: 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: 27476652; Phenotypes: tufted angiomas (TA), laposiform hemangioendotheliomas (KHE), lobular capillary hemangiomas (LCH); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders v0.0 | GNA14 |
Zornitza Stark gene: GNA14 was added gene: GNA14 was added to Mosaic skin disorders. Sources: Expert Review Green,NHS GMS,Genomics England PanelApp Mode of inheritance for gene: GNA14 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GNA14 were set to 27476652 Phenotypes for gene: GNA14 were set to Kaposiform endothelioma; Tufted angioma |
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