CLDN5

claudin 5
OMIM: 602101, ClinGen, DECIPHER

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Amber CLDN5 in Alternating Hemiplegia and Hemiplegic Migraine


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • alternating hemiplegia, MONDO:0016210, CLDN5-related

Green CLDN5 in Brain Calcification


Level 2: Neurology and neurodevelopmental disorders
Version 3.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Syndromic disorder, MONDO:0002254, CLDN5-related

Green CLDN5 in Mendeliome


Version 2.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Syndromic disorder, MONDO:0002254, CLDN5-related

Green CLDN5 in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Syndromic disorder, MONDO:0002254, CLDN5-related

Green CLDN5 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Syndromic disorder, MONDO:0002254, CLDN5-related

Green CLDN5 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Syndromic disorder, MONDO:0002254, CLDN5-related

Green CLDN5 in Paroxysmal Dyskinesia


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Syndromic disorder, MONDO:0002254, CLDN5-related
  • familial migraine
  • alternating hemiplegia
  • hemiplegic migraine
  • brain calcification
  • acquired microcephaly
  • epilepsy