Neurofibromatosis Type 1

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

3 reviews

Helen Lindsay (Leeds Genetics Laboratory)

Green List (high evidence)

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

Mark Greenslade (Bristol Genetics Laboratory)

Green List (high evidence)

Helen Savage (Congenica Ltd)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fanconi anemia complementation group J

Publications

History Filter Activity

21 Dec 2016, Gel status: 4

Set publications

Alice Gardham (Genomics England)

Publications for BRIP1 were set to PMID: 16116424; 16116423

14 Nov 2016, Gel status: 4

panel promoted to version 1

Alice Gardham (Genomics England)

Panel finalised 14th November 2016

2 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

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

2 Nov 2016, Gel status: 3

Added New Source

Alice Gardham (Genomics England)

BRIP1 was added to Neurofibromatosis Type 1panel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN

2 Nov 2016, Gel status: 0

Created

Alice Gardham (Genomics England)

BRIP1 was created by agardham