Pigmentary skin disorders

Gene: BAP1

Green List (high evidence)

BAP1 (BRCA1 associated protein 1)
EnsemblGeneIds (GRCh38): ENSG00000163930
EnsemblGeneIds (GRCh37): ENSG00000163930
OMIM: 603089, Gene2Phenotype
BAP1 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
TUMOR PREDISPOSITION SYNDROME; TPDS

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: BAP1; 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
  • TPDS
  • Melanoma susceptility
  • TUMOR PREDISPOSITION SYNDROME
OMIM
603089
Clinvar variants
Variants in BAP1
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 TPDS; TUMOR PREDISPOSITION SYNDROME for gene: BAP1 Publications for gene BAP1 were changed from to 21874003

18 Feb 2019, Gel status: 4

Added New Source

Rebecca Foulger (Genomics England curator)

Source London North GLH was added to BAP1.

31 Jan 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: BAP1 was added gene: BAP1 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: BAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: BAP1 were set to Melanoma susceptility