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STRs in panel
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COVID-19 research

Gene: BRIP1

Green List (high evidence)

BRIP1 (BRCA1 interacting protein C-terminal helicase 1)
EnsemblGeneIds (GRCh38): ENSG00000136492
EnsemblGeneIds (GRCh37): ENSG00000136492
OMIM: 605882, Gene2Phenotype
BRIP1 is in 23 panels

2 reviews

Sophie Hambleton (Newcastle University)

Green List (high evidence)

IUIS gene
Created: 27 Apr 2020, 12:05 p.m. | Last Modified: 27 Apr 2020, 12:05 p.m.
Panel Version: 0.163

Ivone Leong (Genomics England Curator)

Green List (high evidence)

IUIS: categorised under bone marrow failure with immune deficiency - Fanconi Anemia section. Inheritance AR. T cells: normal to low. B cells: normal to low. Other affected cells: HSC. Associated features: Normal to low NK, CNS, skeletal, skin, cardiac, GI, urogenital anomalies, increased chromosomal breakage.
Created: 15 Apr 2020, 12:09 p.m. | Last Modified: 15 Apr 2020, 12:09 p.m.
Panel Version: 0.103

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fanconi anemia, complementation group J, 609054

Publications

History Filter Activity

15 Apr 2020, Gel status: 3

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

Ivone Leong (Genomics England Curator)

gene: BRIP1 was added gene: BRIP1 was added to Viral susceptibility. Sources: Expert Review Green,IUIS Classification December 2019 Mode of inheritance for gene: BRIP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BRIP1 were set to 32086639; 32048120 Phenotypes for gene: BRIP1 were set to Fanconi anemia, complementation group J, 609054