Monogenic hearing loss

Gene: GRXCR2

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.

Created: 5 Dec 2024, 8:33 p.m. | Last Modified: 5 Dec 2024, 8:33 p.m.

Panel Version: 4.62

Comment on list classification: As reviewed by Sadaf Naz, one family from Pakistan was reported with homozygous c.714dupT (p.Gly239TrpfsTer74) variant, and one family and an unrelated individual from Cameroon were reported with homozygous c.251delC (p.Ile85SerfsTer33) variant. In addition, some functional evidence is available for these variants.

Hence, this gene can be promoted to green rating in the next GMS update.

Created: 26 Jun 2024, 4:04 p.m. | Last Modified: 26 Jun 2024, 4:07 p.m.

Panel Version: 4.47

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Deafness, autosomal recessive 101, OMIM:615837

Publications

• 24619944
• 33528103

Green List (high evidence)

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

• PMID: 33528103, PMID:24619944

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

• PMID:24619944