CLCN1

chloride voltage-gated channel 1
OMIM: 118425, Gene2Phenotype

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Green CLCN1 in Mendeliome Version 1.1902	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Myotonia congenita, dominant 160800 Myotonia congenita, recessive 255700
Green CLCN1 in Paroxysmal Dyskinesia Level 2: Neurology and neurodevelopmental disorders Version 0.131 Component of the following Super Panels: Dystonia_Superpanel Neuromuscular Superpanel Tremors_Superpanel	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Myotonia congenita, dominant, MIM# 160800 Myotonia congenita, recessive, MIM# 255700
Green CLCN1 in Skeletal Muscle Channelopathies Level 2: Neurology and neurodevelopmental disorders Version 1.1 Component of the following Super Panels: Myopathy Superpanel Neuromuscular Superpanel	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Myotonia congenita, dominant, 160800 Hyperkalemic Periodic Paralysis Myotonia Congenita Myotonia Myotonia congenita, recessive, 255700 Myotonia levior, recessive
Red CLCN1 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category C gene Phenotypes Myotonia congenita, dominant, MIM# 160800 Myotonia congenita, recessive, MIM# 255700
Red CLCN1 in BabyScreen+ newborn screening Level 2: Screening Version 1.114	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Myotonia congenita, recessive, MIM# 255700 Myotonia congenita, dominant, MIM# 160800