Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Mosaic skin disorders - deep sequencing v1.5 | HCCS | Arina Puzriakova Tag curated_removed tag was added to gene: HCCS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mosaic skin disorders - deep sequencing v0.16 | HCCS | Tom Cullup reviewed gene: HCCS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Microophthalmia with linear skin defects syndrome (not DNA mosaic but expression mosaicism); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mosaic skin disorders - deep sequencing v0.15 | HCCS |
Catherine Snow Source Expert Review Removed was added to HCCS. Rating Changed from Green List (high evidence) to No List (delete) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mosaic skin disorders - deep sequencing v0.7 | HCCS | Rebecca Foulger Source London North GLH was added to HCCS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mosaic skin disorders - deep sequencing v0.4 | HCCS | Rebecca Foulger reviewed gene: HCCS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mosaic skin disorders - deep sequencing v0.3 | HCCS |
Rebecca Foulger gene: HCCS was added gene: HCCS was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: HCCS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: HCCS were set to Microophthalmia with linear skin defects syndrome (not DNA mosaic but expression mosaicism) |