Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v1.53 | ADAR | Arina Puzriakova Phenotypes for gene: ADAR were changed from AGS6; DYSCHROMATOSIS SYMMETRICA HEREDITARIA; DSH, AICARDI-GOUTIERES SYNDROME 6; Dyschromatosis symmetrica hereditaria (AKA reticulate acropigmentation of Dohi) to Dyschromatosis symmetrica hereditaria, OMIM:127400; Aicardi-Goutieres syndrome 6, OMIM:615010 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v1.52 | ADAR | Arina Puzriakova Publications for gene: ADAR were set to 12916015; 23001123 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v0.27 | ADAR |
Catherine Snow Added phenotypes DYSCHROMATOSIS SYMMETRICA HEREDITARIA; DSH, AICARDI-GOUTIERES SYNDROME 6; AGS6 for gene: ADAR Publications for gene ADAR were changed from to 12916015; 23001123 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v0.25 | ADAR | Tom Cullup reviewed gene: ADAR: Rating: GREEN; Mode of pathogenicity: ; Publications: 12916015, 23001123; Phenotypes: DYSCHROMATOSIS SYMMETRICA HEREDITARIA, DSH, AICARDI-GOUTIERES SYNDROME 6, AGS6; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v0.8 | ADAR | Rebecca Foulger Source London North GLH was added to ADAR. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v0.4 | ADAR | Rebecca Foulger reviewed gene: ADAR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v0.3 | ADAR |
Rebecca Foulger gene: ADAR was added gene: ADAR was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ADAR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: ADAR were set to Dyschromatosis symmetrica hereditaria (AKA reticulate acropigmentation of Dohi) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||