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Mendeliome

Gene: CLCA2

Amber List (moderate evidence)

CLCA2 (chloride channel accessory 2)
EnsemblGeneIds (GRCh38): ENSG00000137975
EnsemblGeneIds (GRCh37): ENSG00000137975
OMIM: 604003, Gene2Phenotype
CLCA2 is in 1 panel

1 review

Bryony Thompson (Royal Melbourne Hospital)

I don't know

Only a single family reported. A missense (p.Trp575Cys) segregates with conduction disease in 5 individuals from a large Chinese family. Electrocardiogram monitoring of mice with missense introduced induced mild conduction block and ectopic pacemakers.
Sources: Literature
Created: 8 Feb 2025, 3:18 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
heart conduction disease MONDO:0000992

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • heart conduction disease MONDO:0000992
OMIM
604003
Clinvar variants
Variants in CLCA2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Feb 2025, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: clca2 has been classified as Amber List (Moderate Evidence).

8 Feb 2025, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: clca2 has been classified as Amber List (Moderate Evidence).

8 Feb 2025, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: CLCA2 was added gene: CLCA2 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: CLCA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CLCA2 were set to 31326550 Phenotypes for gene: CLCA2 were set to heart conduction disease MONDO:0000992 Review for gene: CLCA2 was set to AMBER