Bone Marrow Failure
Gene: BRIP1

BRIP1 (BRCA1 interacting protein C-terminal helicase 1)
EnsemblGeneIds (GRCh38): ENSG00000136492
EnsemblGeneIds (GRCh37): ENSG00000136492
OMIM: 605882, Gene2Phenotype
BRIP1 is in 12 panels

2 reviews

Santosh Varughese (University of Melbourne)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fanconi anaemia, complementation group J

Publications

27107905

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Variants in this GENE are reported as part of current diagnostic practice

Created: 22 May 2024, 7:32 a.m.
Last Modified: 22 May 2024, 7:32 a.m.
Panel version: 1.91

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.
Created: 15 Jun 2021, 10:15 a.m. | Last Modified: 15 Jun 2021, 10:15 a.m.

Panel Version: 0.232

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fanconi anaemia, complementation group J, MIM# 609054

Publications

27107905

Created: 15 Jun 2021, 10:15 a.m.
Last Modified: 15 Jun 2021, 10:15 a.m.
Panel version: 0.232

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Fanconi anaemia, complementation group J, MIM# 609054

Tags

treatable

OMIM

605882

Clinvar variants

Variants in BRIP1

Penetrance

None

Publications

27107905

Panels with this gene