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Limb disorders

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

Helen Brittain (Genomics England Curator)

Green List (high evidence)

Comment when marking as ready: In biallelic form, causes FA. Therefore radial dysplasia is an associated phenotypic feature.
Created: 11 May 2017, 9:36 a.m.
Comment when marking as ready: Sufficient evidence of causation for FA
Created: 28 Feb 2017, 1:15 p.m.
Sufficient evidence that biallelic mutations cause FA
Created: 20 Feb 2017, 11 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fanconi anemia, complementation group J 609054

Publications

Created: 20 Feb 2017, 11 a.m.

Panel version: Imported from Radial dysplasia panel version Imported from "Cytopaenias and congenital anaemias" panel version 0.4

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
Unknown

Phenotypes
Fanconi anemia

Publications

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

Created: 16 Jan 2017, 3:45 p.m.

Panel version: Imported from Radial dysplasia panel version Imported from "Cytopaenias and congenital anaemias" panel version Imported from "Anaemias and red cell disorders" panel version 0.9

History Filter Activity

5 Apr 2022, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: BRIP1 were changed from Radial Ray abnormality; Fanconi anemia, complementation group J, 609054 to Fanconi anemia, complementation group J, OMIM:609054; Radial ray abnormality

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Helen Brittain: Sufficient evidence that biall

16 Oct 2018, Gel status: 4

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

Sarah Leigh (Genomics England Curator)

Source Expert Review Green was added to BRIP1. Mode of inheritance for gene BRIP1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Fanconi anemia, complementation group J, 609054 for gene: BRIP1 Publications for gene BRIP1 were changed from to 16153896; 16116424; 14630800; 16116423

13 Aug 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

BRIP1 was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services

13 Aug 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

BRIP1 was created by Ellen McDonagh