Skeletal Muscle Channelopathies
Gene: CLCN1Comment when marking as ready: Changed complete penetrance to incompleteCreated: 21 Jan 2017, 12:45 p.m.
Can have reduced penetrance.Created: 10 Jan 2017, 11:35 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Dominant myotonia congenita; recessive myotonia congenita
Publications
Is on the Muscle Channel NGS Panel in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual.Created: 10 Jun 2016, 2:42 p.m.
Comment on mode of inheritance: Changed to both due to evidence in OMIM.Created: 10 Jun 2016, 2:24 p.m.
Comment on list classification: This gene is in the genetic muscle channel diseases section in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual, for testing of myotonia congentia, one of the main skeletal muscle channelopathies.Created: 10 Jun 2016, 2:24 p.m.
Promoted 22/02/2017 after curation discussion and further review with members of the Genomics England curation team.
This gene has been classified as Green List (High Evidence).
Publications for CLCN1 were set to 11840191; 18337100; 22649220
Publications for CLCN1 were set to 11840191; 18337100; 22649220
Publications for CLCN1 were set to 11840191; 18337100; 22649220
Mode of inheritance for CLCN1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
CLCN1 was added to Skeletal Muscle Channelopathiespanel. Sources: Eligibility statement prior genetic testing
CLCN1 was added to Skeletal Muscle Channelopathiespanel. Sources: UKGTN
Model of inheritance for gene CLCN1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
CLCN1 was added to Skeletal Muscle Channelopathiespanel. Sources: Illumina TruGenome Clinical Sequencing Services
CLCN1 was added to Skeletal Muscle Channelopathiespanel. Sources: Radboud University Medical Center, Nijmegen