Activity
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11 actions
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| Mosaic skin disorders - deep sequencing v2.37 | AKT2 | Arina Puzriakova commented on gene: AKT2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - deep sequencing v2.37 | AKT2 | Arina Puzriakova Publications for gene: AKT2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - deep sequencing v2.36 | AKT2 | Arina Puzriakova Mode of pathogenicity for gene: AKT2 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - deep sequencing v2.35 | AKT2 | Arina Puzriakova Phenotypes for gene: AKT2 were changed from Overgrowth syndrome (not always mosaic in this case) to Hypoinsulinemic hypoglycemia with hemihypertrophy, OMIM:240900 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - deep sequencing v2.1 | AKT2 | Tom Cullup edited their review of gene: AKT2: Added comment: Hot-spot variant Glu17Lys reported multiple times de novo, at least twice mosaic (21979934; 24285683); Changed rating: GREEN; Changed mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Changed publications to: 21979934, 24285683; Changed phenotypes to: hypoinsulinemic hypoglycemia with hemihypertrophy (HIHGHH) (MIM 240900) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - deep sequencing v1.5 | AKT2 | Arina Puzriakova Tag curated_removed tag was added to gene: AKT2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - deep sequencing v0.16 | AKT2 | Tom Cullup reviewed gene: AKT2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Overgrowth syndrome (not always mosaic in this case); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - deep sequencing v0.15 | AKT2 |
Catherine Snow Source Expert Review Removed was added to AKT2. Rating Changed from Green List (high evidence) to No List (delete) |
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| Mosaic skin disorders - deep sequencing v0.7 | AKT2 | Rebecca Foulger Source London North GLH was added to AKT2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - deep sequencing v0.4 | AKT2 | Rebecca Foulger reviewed gene: AKT2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - deep sequencing v0.3 | AKT2 |
Rebecca Foulger gene: AKT2 was added gene: AKT2 was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: AKT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: AKT2 were set to Overgrowth syndrome (not always mosaic in this case) |
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