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  3. CLDN5
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Paroxysmal Dyskinesia

Gene: CLDN5

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

1 review

Shekeeb Mohammad (Children's Hospital at Westmead)

Green List (high evidence)

Sources: Literature
Created: 15 Sep 2023, 5:03 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
familial migraine; alternating hemiplegia; hemiplegic migraine; brain calcification; acquired microcephaly; epilepsy

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 15 Sep 2023, 5:03 a.m.

Panel version: 0.112

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Syndromic disorder, MONDO:0002254, CLDN5-related
  • familial migraine
  • alternating hemiplegia
  • hemiplegic migraine
  • brain calcification
  • acquired microcephaly
  • epilepsy
OMIM
602101
Clinvar variants
Variants in CLDN5
Penetrance
Incomplete
Publications
Panels with this gene

History Filter Activity

18 Sep 2023, 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).

18 Sep 2023, 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).

18 Sep 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CLDN5 were changed from familial migraine; alternating hemiplegia; hemiplegic migraine; brain calcification; acquired microcephaly; epilepsy to Syndromic disorder, MONDO:0002254, CLDN5-related; familial migraine; alternating hemiplegia; hemiplegic migraine; brain calcification; acquired microcephaly; epilepsy

18 Sep 2023, 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).

15 Sep 2023, Gel status: 0

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

Shekeeb Mohammad (Children's Hospital at Westmead)

gene: CLDN5 was added gene: CLDN5 was added to Paroxysmal Dyskinesia. Sources: Literature Mode of inheritance for gene: CLDN5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CLDN5 were set to 35714222; 36825455 Phenotypes for gene: CLDN5 were set to familial migraine; alternating hemiplegia; hemiplegic migraine; brain calcification; acquired microcephaly; epilepsy Penetrance for gene: CLDN5 were set to Incomplete Review for gene: CLDN5 was set to GREEN gene: CLDN5 was marked as current diagnostic