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