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  3. MYOCD
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Fetal anomalies

Gene: MYOCD

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

2 reviews

Arina Puzriakova (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 3 Mar 2022, 11:19 a.m. | Last Modified: 3 Mar 2022, 11:19 a.m.
Panel Version: 1.836
Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Created: 29 Jan 2021, 4:49 p.m. | Last Modified: 29 Jan 2021, 4:49 p.m.
Panel Version: 1.285
Created: 29 Jan 2021, 4:49 p.m.
Last Modified: 29 Jan 2021, 4:49 p.m.
Panel version: 1.836

Rhiannon Mellis (Great Ormond Street Hospital)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): CAKUT
Sources: Expert list
Created: 28 Jan 2021, 4:54 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Megabladder, congenital

Created: 28 Jan 2021, 4:54 p.m.

Panel version: 1.214

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
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

3 Mar 2022, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review was removed from gene: MYOCD.

3 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 mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: MYOCD was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

29 Jan 2021, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: MYOCD were set to

29 Jan 2021, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

29 Jan 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

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

29 Jan 2021, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

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

28 Jan 2021, Gel status: 0

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

Rhiannon Mellis (Great Ormond Street Hospital)

gene: MYOCD was added gene: MYOCD was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: MYOCD was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MYOCD were set to Megabladder, congenital Review for gene: MYOCD was set to GREEN