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Mendeliome

Gene: MYOD1

Green List (high evidence)

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Three unrelated families reported.
Sources: Expert list
Created: 21 Aug 2020, 6:52 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Details

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

History Filter Activity

21 Aug 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: myod1 has been classified as Green List (High Evidence).

21 Aug 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: myod1 has been classified as Green List (High Evidence).

21 Aug 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MYOD1 was added gene: MYOD1 was added to Mendeliome. Sources: Expert list 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