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| Monogenic hearing loss v4.36 | GRAP |
Achchuthan Shanmugasundram commented on 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). |
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| Monogenic hearing loss v4.36 | GRAP | Achchuthan Shanmugasundram Classified gene: GRAP as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v4.36 | GRAP | Achchuthan Shanmugasundram Gene: grap has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v4.35 | GRAP | Achchuthan Shanmugasundram Phenotypes for gene: GRAP were changed from Non-syndromic hearing loss to Deafness, autosomal recessive 114, OMIM:618456 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v4.34 | GRAP | Achchuthan Shanmugasundram reviewed gene: GRAP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 114, OMIM:618456; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v4.34 | GRAP | Achchuthan Shanmugasundram Publications for gene: GRAP were set to PMID: 30610177 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.247 | GRAP |
Barbara Vona 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 Added comment: 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: Literature |
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