Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Pigmentary skin disorders v0.27 | POGLUT1 |
Catherine Snow Added phenotypes DDD4; DOWLING-DEGOS DISEASE 4 for gene: POGLUT1 Publications for gene POGLUT1 were changed from to 24387993 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.25 | POGLUT1 | Tom Cullup reviewed gene: POGLUT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24387993; Phenotypes: DOWLING-DEGOS DISEASE 4, DDD4; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.8 | POGLUT1 | Rebecca Foulger Source London North GLH was added to POGLUT1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.4 | POGLUT1 | Rebecca Foulger reviewed gene: POGLUT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.3 | POGLUT1 |
Rebecca Foulger gene: POGLUT1 was added gene: POGLUT1 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: POGLUT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: POGLUT1 were set to Dowling-Degos disease |