Paroxysmal Dyskinesia
Gene: CLCN1EnsemblGeneIds (GRCh38): ENSG00000188037
EnsemblGeneIds (GRCh37): ENSG00000188037
OMIM: 118425, Gene2Phenotype
CLCN1 is in 5 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Myotonia congenita, dominant, MIM# 160800; Myotonia congenita, recessive, MIM# 255700
Sue White (Victorian Clinical Genetics Services)
Mono- and biallelic variants cause mytonia congenita, which is an important differential diagnosis to other movement disorder presentations
Sources: Expert ReviewCreated: 21 Jul 2020, 12:30 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- Myotonia congenita, dominant, MIM# 160800
- Myotonia congenita, recessive, MIM# 255700
- OMIM
- 118425
- Clinvar variants
- Variants in CLCN1
- Penetrance
- None
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: clcn1 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: CLCN1 were changed from to Myotonia congenita, dominant, MIM# 160800; Myotonia congenita, recessive, MIM# 255700
Entity classified by Genomics England curator
Sue White (Victorian Clinical Genetics Services)Gene: clcn1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance
Sue White (Victorian Clinical Genetics Services)gene: CLCN1 was added gene: CLCN1 was added to Paroxysmal Dyskinesia. Sources: Expert Review Mode of inheritance for gene: CLCN1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal