Alternating Hemiplegia and Hemiplegic Migraine
Gene: CLDN5EnsemblGeneIds (GRCh38): ENSG00000184113
EnsemblGeneIds (GRCh37): ENSG00000184113
OMIM: 602101, Gene2Phenotype
CLDN5 is in 7 panels
1 review
Hazel Phillimore (Victorian Clinical Genetics Services)
PMID: 35714222; Hashimoto, Y. et al. (2022): Two unrelated cases (early-onset) with alternating hemiplegia with microcephaly were shown to have the same de novo variant, NM_001363066.2:c.178G>A, p.(Gly60Arg).
One with Jewish / Tunisian ancestry: Onset was at 8 months, three episodes of febrile tonic-clonic 1 seizures of the four limbs, with eye rolling, loss of consciousness, transient left and right post-2 ictal hemiparesis and vomiting.
The other with Asian / European ancestry: Onset was at 30 months with three iterative episodes of febrile and non-febrile hemiplegia and loss of 18 consciousness. The recurrent episodes alternatively involved the left-and 19 right-hand side, then generalised and were followed by post ictal hemiparesis.
CT scans of both showed brain calcifications and aberrant blood flow patterns.
Transfected cell lines with this variant, c178G>A, showed higher chloride ion permeability and lower sodium ion permeability when compared to wildtype.
Sources: LiteratureCreated: 14 Jul 2022, 2:05 a.m. | Last Modified: 14 Jul 2022, 2:38 a.m.
Panel Version: 0.53
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
alternating hemiplegia with microcephaly
Publications
- PMID: 35714222
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 Amber
- Phenotypes
-
- alternating hemiplegia, MONDO:0016210, CLDN5-related
- OMIM
- 602101
- Clinvar variants
- Variants in CLDN5
- Penetrance
- None
- Publications
-
- PMID: 35714222
- 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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cldn5 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: CLDN5 were changed from alternating hemiplegia with microcephaly to alternating hemiplegia, MONDO:0016210, CLDN5-related
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cldn5 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity
Hazel Phillimore (Victorian Clinical Genetics Services)gene: CLDN5 was added gene: CLDN5 was added to Alternating Hemiplegia and Hemiplegic Migraine. 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: 35714222 Phenotypes for gene: CLDN5 were set to alternating hemiplegia with microcephaly 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 AMBER