Monogenic hearing loss
Gene: BCR

BCR (BCR, RhoGEF and GTPase activating protein)
EnsemblGeneIds (GRCh38): ENSG00000186716
EnsemblGeneIds (GRCh37): ENSG00000186716
OMIM: 151410, Gene2Phenotype
BCR is in 2 panels

1 review

Jun Shen (Harvard Medical School)

Red List (low evidence)

Mode of inheritance
Unknown

Phenotypes
#608232:Leukemia, chronic myeloid, somatic[Chronic myelogenous leukemiaPh-positive acute lymphoblastic leukemia; Low leukocyte alkaline phosphatase activityPresence of the Philadelphia chromosome (translocation of 9q34 and 22q11) in greater than 95% of patientsTwo alternative chimeric oncogene products called p210(BCR-ABL) and p185(BCR-ABL)Detection by RT-PCR, Southern blot analysis, and FISH for primary diagnosis and follow up for residual disease; Translocation of cellular oncogene C-ABL () to the BCR gene on chromosome 22 resulting in chimeric BRC-ABL gene]; #613065:Leukemia, acute lymphocytic, somatic[<omim version=1.0><clinicalSynopsisList>]

Publications

Created: 7 Feb 2016, 5:58 a.m.

Panel version: 0.105

Details

Sources

Expert

OMIM

151410

Clinvar variants

Variants in BCR

Penetrance

Complete

Panels with this gene

History Filter Activity

24 Jun 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

BCR was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Expert