Muscular dystrophy and myopathy_Paediatric
Gene: CHRNDEnsemblGeneIds (GRCh38): ENSG00000135902
EnsemblGeneIds (GRCh37): ENSG00000135902
OMIM: 100720, Gene2Phenotype
CHRND is in 12 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Single case with congenital centronuclear myopathy reported
Sources: LiteratureCreated: 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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Literature
- Phenotypes
-
- congenital myopathy MONDO:0019952
- OMIM
- 100720
- Clinvar variants
- Variants in CHRND
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Fetal anomalies
- Congenital Myasthenia
- Additional findings_Paediatric
- Prepair 1000+
- Arthrogryposis
- Mendeliome
- BabyScreen+ newborn screening
- Hydrops fetalis
- Congenital ophthalmoplegia
- Multiple pterygium syndrome_Fetal akinesia sequence
- Muscular dystrophy and myopathy_Paediatric
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: chrnd has been classified as Red List (Low Evidence).
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