Pigmentary skin disordersGene: BAP1
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
TUMOR PREDISPOSITION SYNDROME; TPDS
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.
Added phenotypes TPDS; TUMOR PREDISPOSITION SYNDROME for gene: BAP1 Publications for gene BAP1 were changed from to 21874003
Source London North GLH was added to BAP1.
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