Monogenic hearing loss
Gene: GRXCR2
So far, two homozygous loss of function (frameshift) variants have been found segregating with hearing loss in members of two families (Pakistani and Cameroonian) as well as correlated with deafness in one sporadic individual from Cameroon. Grxcr2 loss of function also causes hearing loss in mice PMID: 30157177. Taken together, there is enough evidence to support the involvement of GRXCR2 variants in causing hearing loss, both in humans and mice.Created: 18 Apr 2024, 5:57 a.m. | Last Modified: 18 Apr 2024, 5:57 a.m.
Panel Version: 4.36
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
#615837: Deafness, autosomal recessive 101
Publications
Mode of pathogenicity
Other
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
#615837:?Deafness, autosomal recessive 101[Hearing loss, sensorineural, bilateral, moderate-to-severe]
Publications
GRXCR2 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Radboud University Medical Center, Nijmegen,Expert
GRXCR2 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Radboud University Medical Center, Nijmegen,Expert