Muscular dystrophy and myopathy_Paediatric

Gene: CHRND

Red List (low evidence)

CHRND (cholinergic receptor nicotinic delta subunit)
EnsemblGeneIds (GRCh38): ENSG00000135902
EnsemblGeneIds (GRCh37): ENSG00000135902
OMIM: 100720, Gene2Phenotype
CHRND is in 12 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

Single case with congenital centronuclear myopathy reported
Sources: Literature
Created: 1 Aug 2024, 1:33 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
congenital myopathy MONDO:0019952

Publications

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

1 Aug 2024, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

1 Aug 2024, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: CHRND was added gene: CHRND was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature Mode of inheritance for gene: CHRND was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CHRND were set to 38982518 Phenotypes for gene: CHRND were set to congenital myopathy MONDO:0019952 Review for gene: CHRND was set to RED gene: CHRND was marked as current diagnostic