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

DDG2P

Gene: CLCN3

Green List (high evidence)

CLCN3 (chloride voltage-gated channel 3)
EnsemblGeneIds (GRCh38): ENSG00000109572
EnsemblGeneIds (GRCh37): ENSG00000109572
OMIM: 600580, Gene2Phenotype
CLCN3 is in 3 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category for the disease CLCN3-related Neurodevelopmental disorder with hypotonia and brain abnormalities, OMIM:619512 is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:34186028). The DDG2P confidence category for the disease CLCN3-related Neurodevelopmental disorder with seizures and brain abnormalities, OMIM:619517 is limited. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID:34186028).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
CLCN3-related Neurodevelopmental disorder with hypotonia and brain abnormalities, OMIM:619512; CLCN3-related Neurodevelopmental disorder with seizures and brain abnormalities, OMIM:619517

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CLCN3-related Neurodevelopmental disorder with hypotonia and brain abnormalities, OMIM:619512
  • CLCN3-related Neurodevelopmental disorder with seizures and brain abnormalities, OMIM:619517
OMIM
600580
Clinvar variants
Variants in CLCN3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Oct 2023, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: CLCN3 was added gene: CLCN3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CLCN3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CLCN3 were set to 34186028 Phenotypes for gene: CLCN3 were set to CLCN3-related Neurodevelopmental disorder with hypotonia and brain abnormalities, OMIM:619512; CLCN3-related Neurodevelopmental disorder with seizures and brain abnormalities, OMIM:619517