Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Intellectual disability syndromic and non-syndromic

Gene: CLCN2

Amber List (moderate evidence)

CLCN2 (chloride voltage-gated channel 2)
EnsemblGeneIds (GRCh38): ENSG00000114859
EnsemblGeneIds (GRCh37): ENSG00000114859
OMIM: 600570, Gene2Phenotype
CLCN2 is in 12 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Neurodegenerative disorder in adults and children. Very small number of paediatric patients described, difficult to know whether intellectual disability is truly a feature.
Created: 27 Nov 2019, 3:07 a.m. | Last Modified: 27 Nov 2019, 3:07 a.m.
Panel Version: 0.10

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leukoencephalopathy with ataxia, MIM#615651

Publications

History Filter Activity

7 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: clcn2 has been classified as Amber List (Moderate Evidence).

7 Dec 2019, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CLCN2 were changed from to Leukoencephalopathy with ataxia, MIM#615651

7 Dec 2019, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CLCN2 were set to

7 Dec 2019, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CLCN2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

7 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: clcn2 has been classified as Amber List (Moderate Evidence).

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CLCN2 was added gene: CLCN2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CLCN2 was set to Unknown