CLIC5

chloride intracellular channel 5
OMIM: 607293, Gene2Phenotype

1 panel

Panel	Reviews	Mode of inheritance	Details
Amber CLIC5 in Monogenic hearing loss Level 2: Audiology Version 5.57 Latest signed off version: v5.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Radboud University Medical Center, Nijmegen Phenotypes #616042:?Deafness, autosomal recessive 103 PMID: 24781754 (Nijjmegen group) progressive hearing impairment, vestibular and possibly mild renal dysfunction

Panel

Reviews

Mode of inheritance

Details

Level 2: Audiology
Version 5.57
Latest signed off version: v5.0 (30 Apr 2025)

Component of the following Super Panels:

Paediatric disorders

review

BIALLELIC, autosomal or pseudoautosomal

#616042:?Deafness, autosomal recessive 103
PMID: 24781754 (Nijjmegen group) progressive hearing impairment, vestibular and possibly mild renal dysfunction