1. Panels
  2. Congenital muscular dystrophy and congenital myopathy
  3. MYOD1
STRs in panel
Prev Next

Congenital muscular dystrophy and congenital myopathy

Gene: MYOD1

Green List (high evidence)
MYOD1 (myogenic differentiation 1)
EnsemblGeneIds (GRCh38): ENSG00000129152
EnsemblGeneIds (GRCh37): ENSG00000129152
OMIM: 159970, Gene2Phenotype
MYOD1 is in 3 panels

3 reviews

Eleanor Williams (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Created: 1 Feb 2023, 5:10 p.m. | Last Modified: 1 Feb 2023, 5:10 p.m.
Panel Version: 3.14
Created: 1 Feb 2023, 5:10 p.m.
Last Modified: 1 Feb 2023, 5:10 p.m.
Copied from panel: Congenital myopathy v3.75

Ivone Leong (Genomics England Curator)

Affected individuals present with hypotonia and respiratory insufficiency. More severe cases develop features in utero and lead to contractures.
Created: 27 Jul 2021, 9:14 a.m. | Last Modified: 27 Jul 2021, 9:14 a.m.
Panel Version: 2.56
Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM but not in Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Created: 8 Jul 2021, 9:20 a.m. | Last Modified: 8 Jul 2021, 9:20 a.m.
Panel Version: 2.46
Created: 8 Jul 2021, 9:20 a.m.
Last Modified: 8 Jul 2021, 9:20 a.m.
Copied from panel: Congenital myopathy v3.75

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Three unrelated families reported.
Sources: Literature
Created: 7 Sep 2020, 8:39 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies, MIM# 618975

Publications

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

Created: 7 Sep 2020, 8:39 p.m.

Copied from panel: Congenital myopathy v3.75

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies, OMIM:618975
OMIM
159970
Clinvar variants
Variants in MYOD1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Feb 2023, Gel status: 3

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

Arina Puzriakova (Genomics England Curator)

gene: MYOD1 was added gene: MYOD1 was added to Congenital muscular dystrophy and congenital myopathy. Sources: NHS GMS,Expert Review Green,Literature Mode of inheritance for gene: MYOD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYOD1 were set to 26733463; 30403323; 31260566 Phenotypes for gene: MYOD1 were set to Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies, OMIM:618975