Limb girdle muscular dystrophy

Gene: CHRND

Red List (low evidence)

CHRND (cholinergic receptor nicotinic delta subunit)
EnsemblGeneIds (GRCh38): ENSG00000135902
EnsemblGeneIds (GRCh37): ENSG00000135902
OMIM: 100720, Gene2Phenotype
CHRND is in 6 panels

3 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: This gene will remain Red based on the review and comments from Chiara Marini Bettolo (NUTH).
Created: 28 Nov 2019, 5:28 p.m. | Last Modified: 28 Nov 2019, 5:28 p.m.
Panel Version: 1.178

Chiara Marini Bettolo (NUTH)

Red List (low evidence)

form of CMS
Created: 21 Oct 2019, 1:27 p.m. | Last Modified: 21 Oct 2019, 1:27 p.m.
Panel Version: 1.97

Phenotypes
Congenital myasthenic syndrome

Publications

Ana Topf (John Walton Muscular Dystrophy Research Centre)

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Myasthenic syndrome, congenital, 3A, slow-channel, 616321

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
  • Yorkshire and North East GLH
  • Expert Review
Phenotypes
  • Myasthenic syndrome, congenital, 3A, slow-channel, 616321
  • Congenital myasthenic syndrome
OMIM
100720
Clinvar variants
Variants in CHRND
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Nov 2019, Gel status: 1

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: chrnd has been classified as Red List (Low Evidence).

13 May 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to CHRND.

13 May 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to CHRND.

13 May 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: CHRND were changed from Myasthenic syndrome, congenital, 3A, slow-channel, 616321 to Myasthenic syndrome, congenital, 3A, slow-channel, 616321; Congenital myasthenic syndrome

17 Apr 2019, Gel status: 1

Set mode of inheritance, Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene CHRND was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Myasthenic syndrome, congenital, 3A, slow-channel, 616321 for gene: CHRND Publications for gene CHRND were changed from to 11782989

17 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: CHRND was added gene: CHRND was added to Limb girdle muscular dystrophy. Sources: Expert Review Mode of inheritance for gene: CHRND was set to