Radial dysplasia

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 21 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

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

History Filter Activity

23 May 2017, Gel status: 4

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

23.05.2017: Panel revised and approved to Version 1.0 after expert review.

22 May 2017, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for BRIP1 were set to Fanconi anemia, complementation group J, 609054

11 May 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

11 May 2017, Gel status: 3

Set Phenotypes

Helen Brittain (Genomics England Curator)

Phenotypes for BRIP1 were set to Fanconi anemia, complementation group J 609054

11 May 2017, Gel status: 3

Set publications

Helen Brittain (Genomics England Curator)

Publications for BRIP1 were set to 14630800; 16116424; 16153896; 16116423

6 Dec 2016, Gel status: 3

Upload gene information

Rebecca Foulger (Genomics England curator)

BRIP1 was added to Radial dysplasiapanel. Sources: Expert list

18 Oct 2016, Gel status: 3

Set Mode of Inheritance, Added New Source

Rebecca Foulger (Genomics England curator)

BRIP1 was added to Radial dysplasiapanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene BRIP1 was set to BIALLELIC, autosomal or pseudoautosomal

18 Oct 2016, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

BRIP1 was added to Radial dysplasiapanel. Source: Radboud University Medical Center, Nijmegen

18 Oct 2016, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

BRIP1 was added to Radial dysplasiapanel. Source: UKGTN

18 Oct 2016, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

BRIP1 was created by rfoulger

18 Oct 2016, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

BRIP1 was added to Radial dysplasiapanel. Sources: Eligibility statement prior genetic testing