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  2. Retinitis pigmentosa_Autosomal Recessive/X-linked
  3. CLCC1
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Retinitis pigmentosa_Autosomal Recessive/X-linked

Gene: CLCC1

Amber List (moderate evidence)
CLCC1 (chloride channel CLIC like 1)
EnsemblGeneIds (GRCh38): ENSG00000121940
EnsemblGeneIds (GRCh37): ENSG00000121940
OMIM: 617539, Gene2Phenotype
CLCC1 is in 2 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinitis pigmentosa 32, MIM# 609913

Publications

Created: 15 Jul 2020, 11:07 p.m.
Last Modified: 15 Jul 2020, 11:07 p.m.
Panel version: 0.55

Bryony Thompson (Royal Melbourne Hospital)

I don't know

A presumptive Pakastani founder mutation (c.75C>A, p.D25E) was identified in 8 consanguineous arRP families. A knockout zebrafish model and a Clcc1 +/- mouse model had a supporting retinal phenotype.
Created: 21 May 2020, 5:37 a.m. | Last Modified: 21 May 2020, 5:37 a.m.
Panel Version: 0.23

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
retinitis pigmentosa

Publications

Created: 21 May 2020, 5:37 a.m.
Last Modified: 21 May 2020, 5:37 a.m.
Panel version: 0.23

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 32, MIM# 609913
OMIM
617539
Clinvar variants
Variants in CLCC1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Jul 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CLCC1 were changed from Retinitis pigmentosa 32 to Retinitis pigmentosa 32, MIM# 609913

21 May 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: clcc1 has been classified as Amber List (Moderate Evidence).

21 May 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: clcc1 has been classified as Amber List (Moderate Evidence).

23 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: CLCC1 was added gene: CLCC1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: CLCC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CLCC1 were set to 30157172 Phenotypes for gene: CLCC1 were set to Retinitis pigmentosa 32