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Paediatric disorders - additional genes

Gene: MYOCD

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

1 review

Sarah Leigh (Genomics England Curator)

I don't know

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 10 Mar 2022, 3:53 p.m. | Last Modified: 10 Mar 2022, 3:53 p.m.
Panel Version: 1.96
Comment on list classification: Chirag Patel (Genetic Health Queensland)(16 Jan 2020) review on CAKUT panel: Four unrelated families. Mono allelic disease in males (megabladder), bi-allelic disease in males and females (megabladder and congenital heart disease). Cosegregation of MYOCD variants with the phenotype in 4 unrelated families by in vitro transactivation studies in which pathogenic variants resulted in abrogated SM gene expression and by the finding of megabladder in 2 distinct mouse models with reduced Myocd activity.
Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 4 variants reported in at least 4 unrelated cases, together with a supportive loss of function mouse model. PMID 31513549 concludes "that monoallelic loss-of-function variants in MYOCD cause congenital megabladder in males and that biallelic variants are associated with disease manifest in females that also involves the cardiovascular system".
Created: 19 May 2020, 5:22 p.m. | Last Modified: 19 May 2020, 5:22 p.m.
Panel Version: 1.53
Sources: Expert Review
Created: 19 May 2020, 5:17 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Megabladder, congenital 618719

Publications

Created: 19 May 2020, 5:17 p.m.

Panel version: 1.96

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Megabladder, congenital, OMIM:618719
  • Megabladder, congenital, MONDO:0032879
OMIM
606127
Clinvar variants
Variants in MYOCD
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Mar 2022, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review was removed from gene: MYOCD.

10 Mar 2022, Gel status: 3

Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to MYOCD. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

29 Jan 2021, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: MYOCD were changed from Megabladder, congenital 618719 to Megabladder, congenital, OMIM:618719; Megabladder, congenital, MONDO:0032879

19 May 2020, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

19 May 2020, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

19 May 2020, Gel status: 1

Added Tag

Sarah Leigh (Genomics England Curator)

Tag for-review tag was added to gene: MYOCD.

19 May 2020, Gel status: 1

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

Sarah Leigh (Genomics England Curator)

gene: MYOCD was added gene: MYOCD was added to Paediatric disorders - additional genes. Sources: Expert Review Mode of inheritance for gene: MYOCD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: MYOCD were set to 31513549 Phenotypes for gene: MYOCD were set to Megabladder, congenital 618719 Review for gene: MYOCD was set to AMBER