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  2. Pulmonary Arterial Hypertension
  3. BRAP
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Pulmonary Arterial Hypertension

Gene: BRAP

Red List (low evidence)
BRAP (BRCA1 associated protein)
EnsemblGeneIds (GRCh38): ENSG00000089234
EnsemblGeneIds (GRCh37): ENSG00000089234
OMIM: 604986, Gene2Phenotype
BRAP is in 2 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

I don't know

A single BRAP missense variant in a Japanese family with PAH, with in vitro functional assays suggesting a gain-of-function.
Sources: Literature
Created: 28 Jan 2020, 12:26 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Pulmonary arterial hypertension

Publications

Created: 28 Jan 2020, 12:26 a.m.

Panel version: 0.28

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Pulmonary arterial hypertension
OMIM
604986
Clinvar variants
Variants in BRAP
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Jul 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: brap has been classified as Red List (Low Evidence).

28 Jan 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: BRAP was added gene: BRAP was added to Pulmonary Arterial Hypertension. Sources: Literature Mode of inheritance for gene: BRAP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: BRAP were set to 30703135 Phenotypes for gene: BRAP were set to Pulmonary arterial hypertension Review for gene: BRAP was set to AMBER