CLIC5

chloride intracellular channel 5
OMIM: 607293, Gene2Phenotype

1 panel

Panel	Reviews	Mode of inheritance	Details
Amber CLIC5 in Monogenic hearing loss Level 3: Non-syndromic hearing loss Level 2: Hearing and ear disorders Version 4.41 Latest signed off version: v4.39 (1 May 2024) 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

Amber CLIC5 in Monogenic hearing loss

Level 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders
Version 4.41
Latest signed off version: v4.39 (1 May 2024)

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