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  3. MYOCD
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Congenital Heart Defect

Gene: MYOCD

Amber List (moderate evidence)
MYOCD (myocardin)
EnsemblGeneIds (GRCh38): ENSG00000141052
EnsemblGeneIds (GRCh37): ENSG00000141052
OMIM: 606127, Gene2Phenotype
MYOCD is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Single family with bi-allelic disease reported, which seems to be more severe expression of the mono-allelic disease, hence the Amber (rather than Red) rating.
Created: 21 Jan 2024, 7:07 a.m. | Last Modified: 21 Jan 2024, 7:07 a.m.
Panel Version: 0.409
Four unrelated families. Mono allelic disease in males (megabladder), bi-allelic disease in males and females (megabladder and congenital heart disease).
Sources: Literature
Created: 17 Jan 2020, 1:38 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Megabladder; congenital heart disease; cardiomyopathy

Publications

Created: 17 Jan 2020, 1:38 a.m.

Panel version: 0.409

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Megabladder
  • congenital heart disease
  • cardiomyopathy
OMIM
606127
Clinvar variants
Variants in MYOCD
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Jan 2024, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

17 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

17 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

17 Jan 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: MYOCD was added gene: MYOCD was added to Congenital Heart Defect. Sources: Literature Mode of inheritance for gene: MYOCD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYOCD were set to 31513549 Phenotypes for gene: MYOCD were set to Megabladder; congenital heart disease; cardiomyopathy Review for gene: MYOCD was set to GREEN