Links from MedGen
Items: 4
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr16:29652999-30197341
| HIRIP3, INO80E, GDPD3, KCTD13, KIF22, CORO1A, DOC2A, MAPK3, MAZ, C16orf92, CDIPT, ALDOA, ASPHD1, C16orf54, MVP, PAGR1, PPP4C, PRRT2, QPRT, SEZ6L2, SPN, TAOK2, TBX6, TLCD3B, TMEM219, YPEL3, ZG16 | | Severe sensorineural hearing impairment, Lower limb asymmetry, Upper limb asymmetry
| Pathogenic
(Oct 1, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr11:47441478
- GRCh38:
- Chr11:47419927
| PSMC3 | | Deafness, cataract, impaired intellectual development, and polyneuropathy, Severe sensorineural hearing impairment, Neurodevelopmental delay,
Developmental cataract | Pathogenic
(Jun 1, 2021) | no assertion criteria provided |
| | | | Congenital sensorineural hearing impairment, Severe sensorineural hearing impairment, Abnormal pinna morphology
| Uncertain significance
(Aug 20, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20763686
- GRCh38:
- Chr13:20189547
| GJB2 | G12fs | Nonsyndromic genetic hearing loss | Pathogenic
(Sep 20, 2018) | reviewed by expert panel
FDA Recognized Database |