Activity
09 Jul 2019
Monogenic hearing loss v1.117
CLIC5
Eleanor Williams Classified gene: CLIC5 as Amber List (moderate evidence)
09 Jul 2019
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.
09 Jul 2019
Monogenic hearing loss v1.117
CLIC5
Eleanor Williams Gene: clic5 has been classified as Amber List (Moderate Evidence).
10 Apr 2019
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.
10 Apr 2019
Monogenic hearing loss v1.103
CLIC5
Eleanor Williams commented on gene: CLIC5
22 Mar 2019
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