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Intellectual disability syndromic and non-syndromic

Gene: CLDN5

Green List (high evidence)

CLDN5 (claudin 5)
EnsemblGeneIds (GRCh38): ENSG00000184113
EnsemblGeneIds (GRCh37): ENSG00000184113
OMIM: 602101, Gene2Phenotype
CLDN5 is in 7 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Reported variants are missense, but zebrafish model supports loss of function mechanism.
Created: 14 Dec 2022, 7:18 p.m. | Last Modified: 14 Dec 2022, 7:18 p.m.
Panel Version: 0.5129

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Syndromic disorder, MONDO:0002254, CLDN5-related

Suliman Khan (Victorian Clinical Genetics Services)

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, 3 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
seizures; developmental delay; microcephaly; brain calcifications

Publications

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Syndromic disorder, MONDO:0002254, CLDN5-related
OMIM
602101
Clinvar variants
Variants in CLDN5
Penetrance
Complete
Publications
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Panels with this gene

History Filter Activity

14 Dec 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cldn5 has been classified as Green List (High Evidence).

14 Dec 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CLDN5 were changed from seizures; developmental delay; microcephaly; brain calcifications to Syndromic disorder, MONDO:0002254, CLDN5-related

14 Dec 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cldn5 has been classified as Green List (High Evidence).

12 Dec 2022, Gel status: 0

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

Suliman Khan (Victorian Clinical Genetics Services)

gene: CLDN5 was added gene: CLDN5 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: CLDN5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CLDN5 were set to PMID: 36477332 Phenotypes for gene: CLDN5 were set to seizures; developmental delay; microcephaly; brain calcifications Penetrance for gene: CLDN5 were set to Complete Mode of pathogenicity for gene: CLDN5 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: CLDN5 was set to GREEN