White matter disorders and cerebral calcification - narrow panel
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, 4:41 p.m. | Last Modified: 16 Oct 2023, 4:41 p.m.
Panel Version: 3.20
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, 10:40 a.m. | Last Modified: 11 Oct 2023, 10:40 a.m.
Panel Version: 3.19
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Comment on list classification: There is sufficient evidence for this gene to be rated GREEN at the next GMS review.Created: 1 Jun 2023, 8:42 a.m. | Last Modified: 1 Jun 2023, 8:42 a.m.
Panel Version: 3.14
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 patients except one (patient 2 who had a single MRI taken at 4 days of age) showed pontine atrophy and brain calcifications from neuroimaging.
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: LiteratureCreated: 31 May 2023, 4:01 p.m. | Last Modified: 1 Jun 2023, 8:42 a.m.
Panel Version: 3.13
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Brain calcifications
Publications
Tag gene-checked tag was added to gene: CLDN5.
Tag Q2_23_promote_green was removed from gene: CLDN5.
Source NHS GMS was added to CLDN5. Source Expert Review Green was added to CLDN5. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: cldn5 has been classified as Amber List (Moderate Evidence).
Tag Q2_23_promote_green tag was added to gene: CLDN5.
Phenotypes for gene: CLDN5 were changed from Brain calcifications to Brain calcifications
Phenotypes for gene: CLDN5 were changed from Brain calcifications to Brain calcifications
Phenotypes for gene: CLDN5 were changed from epilepsy, MONDO:0005027 to Brain calcifications
gene: CLDN5 was added gene: CLDN5 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Literature Mode of inheritance for gene: CLDN5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CLDN5 were set to 36477332 Phenotypes for gene: CLDN5 were set to epilepsy, MONDO:0005027 Review for gene: CLDN5 was set to GREEN