Early onset or syndromic epilepsy

Gene: CLDN5

This gene currently has no phenotype in OMIM but the paper PMID:36477332 mentions the same gene name so adding the gene-checked tag.

Created: 16 Oct 2023, 4:39 p.m. | Last Modified: 16 Oct 2023, 4:39 p.m.

Panel Version: 4.117

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.

Created: 11 Oct 2023, 11:59 a.m. | Last Modified: 11 Oct 2023, 11:59 a.m.

Panel Version: 4.110

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Green List (high evidence)

Comment on list classification: There is sufficient evidence for this gene to be rated GREEN at the next GMS review.

Created: 31 May 2023, 4:20 p.m. | Last Modified: 31 May 2023, 4:20 p.m.

Panel Version: 4.44

PMID:36477332 reported the identification of de novo heterozygous missense variants in CLDN5 in 15 unrelated patients who presented with a number of clinical features including developmental delay including intellectual disability, seizures (primarily infantile onset focal epilepsy), microcephaly and a recognisable pattern of pontine atrophy and brain calcifications. All 15 patients had seizures.

In addition, functional studies from zebrafish model also provided parallel evidence that CLDN5 variants cause a neurodevelopmental disorder involving disruption of the blood brain barrier and impaired neuronal function.

This gene has been associated with relevant phenotypes in Gene2Phenotype (CLDN5-related neurodevelopmental disorder with 'limited' rating in the DD panel), but not in OMIM.
Sources: Literature

Created: 31 May 2023, 4:01 p.m. | Last Modified: 31 May 2023, 6:34 p.m.

Panel Version: 4.44

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
epilepsy, MONDO:0005027

Publications

• 36477332