Monogenic hearing loss

Gene: GPR156

Green List (high evidence)

The rating of this gene has been updated to green 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 Andrew Mumford, there are three unrelated families with biallelic (either homozygous or compound heterozygous) GPR156 variants reported with congenital nonsyndromic bilateral sensorineural hearing loss. Hence, this gene should be promoted to green rating in the next GMS review.

Created: 18 Sep 2023, 7:20 p.m. | Last Modified: 18 Sep 2023, 7:20 p.m.

Panel Version: 4.18

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
sensorineural hearing loss disorder, MONDO:0020678

Publications

• 36928819

Green List (high evidence)

The association between biallelic LoF variants in GPR156 and non-syndromic sensorineural hearing loss was identified in an association analysis in the 100KGP RD main programme in two pedigrees and replicated in a further large independent pedigree (reported in PMID:36928819). A causal association is supported by replication of the phenotype in a GPR156-/- mouse model and credible mechanistic evidence in primary cel cultures (PMID:34001891).
Sources: Research

Created: 6 Sep 2023, 9:23 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
sensorineural hearing loss

Publications

• PMID:36928829