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Monogenic hearing loss v6.4 CLIC5 Ida Ertmanska changed review comment from: ADDITIONAL CASES SINCE 2019:

PMID: 40957967 Pshennikova et al., 2026
Founder variant in Eastern Siberia: CLIC5 c.644 G>A p.(Trp215*) causes progressive AR deafness. Found in homozygous state in 22 patients from 16 unrelated families in Siberia (Russia). Hearing loss was sensorineural, symmetrical and variable by severity (from moderate to profound). Founder calculated to have arisen 78 generations ago.

PMID: 40928595 Jagannath et al., 2025
Cohort of 105 Indian individuals with hearing loss. Family 19 - proband with congenital bilateral severe-to-profound sensorineural hearing loss, homozygous for variant (CLIC5):c.401A > G, (p.Asn134Ser) - only 1 het individual in gnomAD v4.1.1. Heterozygous family members unaffected. Method: Exome seq + Sanger. *Assessed to be VUS by ACMG criteria in the article.

PMID: 33114113 Wonkam-Tingang et al., 2020
Report of a Cameroonian family with non-syndromic hearing impairment and biallelic CLIC5 variants NM_016929.5:c.224T>C; p.(L75P) and NM_016929.5: c.63+1G>A. The variants segregated with disease, with 3 affected family members carrying both variants, and other individuals being unaffected if WT or carrying one of the mutations. The 3 affected sibs were 25-36 years old, no age of onset given.; to: ADDITIONAL CASES SINCE 2019:

PMID: 40957967 Pshennikova et al., 2026
Founder variant in Eastern Siberia: CLIC5 c.644 G>A p.(Trp215*) causes progressive AR deafness. Found in homozygous state in 22 patients from 16 unrelated families in Siberia (Russia). Hearing loss was sensorineural, symmetrical and variable by severity (from moderate to profound). Founder calculated to have arisen 78 generations ago. Method: WES + Sanger.

PMID: 40928595 Jagannath et al., 2025
Cohort of 105 Indian individuals with hearing loss. Family 19 - proband with congenital bilateral severe-to-profound sensorineural hearing loss, homozygous for variant (CLIC5):c.401A > G, (p.Asn134Ser) - only 1 het individual in gnomAD v4.1.1. Heterozygous family members unaffected. Method: Exome seq + Sanger. *Assessed to be VUS by ACMG criteria in the article.

PMID: 33114113 Wonkam-Tingang et al., 2020
Report of a Cameroonian family with non-syndromic hearing impairment and biallelic CLIC5 variants NM_016929.5:c.224T>C; p.(L75P) and NM_016929.5: c.63+1G>A. The variants segregated with disease, with 3 affected family members carrying both variants, and other individuals being unaffected if WT or carrying one of the mutations. The 3 affected sibs were 25-36 years old, no age of onset given.
Monogenic hearing loss v6.4 CLIC5 Ida Ertmanska Phenotypes for gene: CLIC5 were changed from #616042:?Deafness, autosomal recessive 103; PMID: 24781754 (Nijjmegen group) progressive hearing impairment, vestibular and possibly mild renal dysfunction to Deafness, autosomal recessive 103, OMIM:616042
Monogenic hearing loss v6.3 CLIC5 Ida Ertmanska Publications for gene: CLIC5 were set to PMID:10793131; 17021174; 18028448; 24781754
Monogenic hearing loss v6.2 CLIC5 Ida Ertmanska Classified gene: CLIC5 as Amber List (moderate evidence)
Monogenic hearing loss v6.2 CLIC5 Ida Ertmanska Added comment: Comment on list classification: There are now more than 3 unrelated families reported in literature with biallelic CLIC5 variants and non-syndromic hearing loss. Hence, this gene should be promoted to Green at the next update.
Monogenic hearing loss v6.2 CLIC5 Ida Ertmanska Gene: clic5 has been classified as Amber List (Moderate Evidence).
Monogenic hearing loss v6.1 CLIC5 Ida Ertmanska Tag Q2_26_promote_green tag was added to gene: CLIC5.
Monogenic hearing loss v6.1 CLIC5 Ida Ertmanska reviewed gene: CLIC5: Rating: GREEN; Mode of pathogenicity: None; Publications: 33114113, 40928595, 40957967; Phenotypes: Deafness, autosomal recessive 103, OMIM:616042; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Monogenic hearing loss v1.117 CLIC5 Eleanor Williams Classified gene: CLIC5 as Amber List (moderate evidence)
Monogenic hearing loss v1.117 CLIC5 Eleanor Williams Added comment: Comment on list classification: Downgrading the rating from green to amber as upon review there was only 1 case, plus some functional data from mouse.
Monogenic hearing loss v1.117 CLIC5 Eleanor Williams Gene: clic5 has been classified as Amber List (Moderate Evidence).
Monogenic hearing loss v1.103 CLIC5 Eleanor Williams commented on gene: CLIC5: Checking with the Genomics England clinical team about the rating of this gene.
Monogenic hearing loss v1.103 CLIC5 Eleanor Williams commented on gene: CLIC5
Monogenic hearing loss v1.103 CLIC5 Alistair Pagnamenta reviewed gene: CLIC5: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 24781754, 17021174; Phenotypes: Nonsyndromic sensorineural deafness; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal