Monogenic hearing loss
Gene: GRAP
As reviewed by Barbara Vona, two unrelated families were reported with the same homozygous missense variant. There is some functional data available as well.
This gene has been associated with relevant phenotype in OMIM (MIM #618456).Created: 12 Apr 2024, 12:54 p.m. | Last Modified: 12 Apr 2024, 12:54 p.m.
Panel Version: 4.36
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Deafness, autosomal recessive 114, OMIM:618456
Two consanguineous families were identified with the same c.311A>T, p.(Gln104Leu) homozygous variant in GRAP. The affected individuals in both families reported congenital profound sensorineural hearing loss. GRAP is expressed in the mouse inner ear in the neuronal fibers innervating cochlear and utricular auditory hair cells. In the fly, it is expressed in the hearing organ, called the Johnston's organ, in cells that include the mechanosensory neurons. Transgenic flies with the human variant showed loss of protein function in vivo. This gene has been assigned to the DFNB114 locus in OMIM (OMIM: #618456).
Sources: LiteratureCreated: 3 Aug 2022, 11:25 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Non-syndromic hearing loss
Publications
Gene: grap has been classified as Red List (Low Evidence).
Phenotypes for gene: GRAP were changed from Non-syndromic hearing loss to Deafness, autosomal recessive 114, OMIM:618456
Publications for gene: GRAP were set to PMID: 30610177
gene: GRAP was added gene: GRAP was added to Hearing loss. Sources: Literature Mode of inheritance for gene: GRAP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GRAP were set to PMID: 30610177 Phenotypes for gene: GRAP were set to Non-syndromic hearing loss Penetrance for gene: GRAP were set to Complete Review for gene: GRAP was set to RED