Genetic Epilepsy

Gene: CLDN5

Green List (high evidence)

Reported variants are missense, but zebrafish model supports loss of function mechanism.

Created: 14 Dec 2022, 7:15 p.m. | Last Modified: 14 Dec 2022, 7:15 p.m.

Panel Version: 0.1817

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Syndromic disorder, MONDO:0002254, CLDN5-related

Green List (high evidence)

PMID: 36477332 identified de novo heterozygous missense variants in CLDN5 in fifteen unrelated patients who presented with a shared constellation of features including developmental delay, seizures (primarily infantile onset focal epilepsy), microcephaly and a recognizable pattern of pontine atrophy and brain calcifications.
Sources: Literature

Created: 12 Dec 2022, 2:58 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
seizures; developmental delay; microcephaly; brain calcifications

Publications

• PMID: 36477332

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments