Pigmentary skin disorders

Gene: ABCB6

Green List (high evidence)

ABCB6 (ATP binding cassette subfamily B member 6 (Langereis blood group))
EnsemblGeneIds (GRCh38): ENSG00000115657
EnsemblGeneIds (GRCh37): ENSG00000115657
OMIM: 605452, Gene2Phenotype
ABCB6 is in 6 panels

2 reviews

Tom Cullup (Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3, 615402

Publications

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

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
Phenotypes
  • DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3, 615402
OMIM
605452
Clinvar variants
Variants in ABCB6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Dec 2019, Gel status: 3

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

18 Feb 2019, Gel status: 4

Added New Source

Rebecca Foulger (Genomics England curator)

Source London North GLH was added to ABCB6.

31 Jan 2019, Gel status: 4

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