Pigmentary skin disorders
Gene: ABCB6EnsemblGeneIds (GRCh38): ENSG00000115657
EnsemblGeneIds (GRCh37): ENSG00000115657
OMIM: 605452, Gene2Phenotype
ABCB6 is in 6 panels
2 reviews
Tom Cullup (Great Ormond Street Hospital)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3, 615402
Publications
Rebecca Foulger (Genomics England curator)
This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: ABCB6; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.Created: 31 Jan 2019, 11:31 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- London North GLH
- NHS GMS
- Expert Review Green
- Phenotypes
-
- DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3, 615402
- OMIM
- 605452
- Clinvar variants
- Variants in ABCB6
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes, Set publications
Catherine Snow (Genomics England)Added phenotypes DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3, 615402 for gene: ABCB6 Publications for gene ABCB6 were changed from to 23519333
Added New Source
Rebecca Foulger (Genomics England curator)Source London North GLH was added to ABCB6.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: ABCB6 was added gene: ABCB6 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ABCB6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ABCB6 were set to DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3, 615402