Congenital myopathy

Gene: MYOD1

Amber List (moderate evidence)

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

2 reviews

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

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies, OMIM:618975
Tags
Q3_21_rating
OMIM
159970
Clinvar variants
Variants in MYOD1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Jul 2021, Gel status: 2

Added Tag

Ivone Leong (Genomics England Curator)

Tag Q3_21_rating tag was added to gene: MYOD1.

8 Jul 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: myod1 has been classified as Amber List (Moderate Evidence).

30 Jun 2021, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: MYOD1 were changed from Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies, MIM# 618975 to Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies, OMIM:618975

7 Sep 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: MYOD1 was added gene: MYOD1 was added to Congenital myopathy. Sources: 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, MIM# 618975 Review for gene: MYOD1 was set to GREEN gene: MYOD1 was marked as current diagnostic