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Hearing loss

Gene: BCAP31

Red List (low evidence)

BCAP31 (B-cell receptor associated protein 31)
EnsemblGeneIds (GRCh38): ENSG00000185825
EnsemblGeneIds (GRCh37): ENSG00000185825
OMIM: 300398, Gene2Phenotype
BCAP31 is in 11 panels

2 reviews

Eleanor Williams (Genomics England Curator)

This gene is associated with Deafness, dystonia, and cerebral hypomyelination in OMIM and DEAFNESS, DYSTONIA, AND CENTRAL HYPOMYELINATION WITH DISORGANIZATION OF THE GOLGI APPARATUS in Gene2Phenotype. See review on Early onset dystonia panel for full details of evidence for association. As this is part of a syndrome is it not suitable to be green on this panel.
Created: 20 Dec 2018, 10:23 a.m.

Jun Shen (Harvard Medical School)

Inheritance:X-linked recessive
Created: 9 Feb 2016, 10:05 a.m.
Inheritance:X-linked recessive Inheritance:X-linked recessive
Created: 7 Feb 2016, 8:55 a.m.

Mode of inheritance
Other

Phenotypes
#300475:Deafness, dystonia, and cerebral hypomyelination[Failure to thrive; Microcephaly; Facial dysmorphism; Sensorineural deafness; StrabismusOptic atrophy (in some patients); Mental retardation, severeLack of psychomotor developmentDystoniaPyramidal signsQuadriplegiaSeizures (in some patients)HypomyelinationCerebral atrophyCerebellar atrophy; Abnormal liver enzymes during illness]

Publications

History Filter Activity

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

BCAP31 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Radboud University Medical Center, Nijmegen