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  3. CLCN4
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Mackenzie's Mission_Reproductive Carrier Screening

Gene: CLCN4

Green List (high evidence)
CLCN4 (chloride voltage-gated channel 4)
EnsemblGeneIds (GRCh38): ENSG00000073464
EnsemblGeneIds (GRCh37): ENSG00000073464
OMIM: 302910, Gene2Phenotype
CLCN4 is in 7 panels

1 review

Sarah Righetti (University of New South Wales)

Green List (high evidence)

NB heterozygous females may be affected. See PMID: 27550844 (Palmer et al 2018). For inherited CLCN4 variants 16/18 heterozygous females were unaffected, 2/18 had mild or severe ID.
Created: 6 Nov 2020, 5:06 a.m. | Last Modified: 6 Nov 2020, 5:06 a.m.
Panel Version: 0.47

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Raynaud-Claes syndrome, MIM #300114

Publications

Created: 6 Nov 2020, 5:06 a.m.
Last Modified: 6 Nov 2020, 5:06 a.m.
Panel version: 0.47

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Raynaud-Claes syndrome, MIM #300114
OMIM
302910
Clinvar variants
Variants in CLCN4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 May 2021, Gel status: 3

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: clcn4 has been classified as Green List (High Evidence).

7 May 2021, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Phenotypes for gene: CLCN4 were changed from Mental retardation, X-linked 49/15, 300114 (3), X-linked recessive to Raynaud-Claes syndrome, MIM #300114

7 May 2021, Gel status: 3

Set publications

Seb Lunke (Victorian Clinical Genetics Services)

Publications for gene: CLCN4 were set to

7 May 2021, Gel status: 3

Set mode of inheritance

Seb Lunke (Victorian Clinical Genetics Services)

Mode of inheritance for gene: CLCN4 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

19 Apr 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CLCN4 was added gene: CLCN4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: CLCN4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: CLCN4 were set to Mental retardation, X-linked 49/15, 300114 (3), X-linked recessive