Genetic Epilepsy
Gene: CLTC

CLTC (clathrin heavy chain)
EnsemblGeneIds (GRCh38): ENSG00000141367
EnsemblGeneIds (GRCh37): ENSG00000141367
OMIM: 118955, Gene2Phenotype
CLTC is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 10 unrelated individuals with de novo variants in this gene reported. Individuals with refractory epilepsy were found to carry variants in the first section of the clathrin light chain-binding domain, whereas truncating mutations affecting the C terminus tended to be associated with hypotonia, global developmental delay, and intellectual disability.
Created: 3 Sep 2020, 11 a.m. | Last Modified: 3 Sep 2020, 11 a.m.

Panel Version: 0.831

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Mental retardation, autosomal dominant 56, MIM# 617854

Publications

Created: 3 Sep 2020, 11 a.m.
Last Modified: 3 Sep 2020, 11 a.m.
Panel version: 0.831

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services
Australian Genomics Health Alliance Epilepsy Flagship

Phenotypes

Mental retardation, autosomal dominant 56, MIM# 617854

OMIM

118955

Clinvar variants

Variants in CLTC

Penetrance

None

Publications

Panels with this gene