1. Panels
  2. Fetal anomalies
  3. MYH11
Genes in panel
Prev Next

Fetal anomalies

Gene: MYH11

Green List (high evidence)
MYH11 (myosin heavy chain 11)
EnsemblGeneIds (GRCh38): ENSG00000133392
EnsemblGeneIds (GRCh37): ENSG00000133392
OMIM: 160745, Gene2Phenotype
MYH11 is in 13 panels

2 reviews

Rhiannon Mellis (Great Ormond Street Hospital)

Green List (high evidence)

3 affected families (MMIH) plus a mouse model - PMID: 25407000, PMID: 29575632, PMID: 31427716.
Created: 28 Apr 2020, 8:06 p.m. | Last Modified: 28 Apr 2020, 8:06 p.m.
Panel Version: 1.11

Phenotypes
Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIH)

Publications

Created: 28 Apr 2020, 8:06 p.m.
Last Modified: 28 Apr 2020, 8:06 p.m.
Panel version: 1.11

Rebecca Foulger (Genomics England curator)

Comment on list classification: Updated rating from Red to Green to match review by Rhiannon Mellis (GOSH).
Created: 28 Apr 2020, 8:12 p.m. | Last Modified: 28 Apr 2020, 8:12 p.m.
Panel Version: 1.15
Comment on mode of inheritance: Set mode of inheritance to BIALLELIC to match papers: compound het and homozygous MYH11 variants associated with MMIH.
Created: 28 Apr 2020, 8:11 p.m. | Last Modified: 28 Apr 2020, 8:11 p.m.
Panel Version: 1.14
Added to panel as suggested by Rhiannon Mellis (GOSH).
Sources: Expert list
Created: 28 Apr 2020, 7:50 p.m.

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

Phenotypes
Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIH)

Created: 28 Apr 2020, 7:50 p.m.

Panel version: 1.8

History Filter Activity

28 Apr 2020, Gel status: 3

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: MYH11 were set to

28 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: myh11 has been classified as Green List (High Evidence).

28 Apr 2020, Gel status: 1

Set mode of inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for gene: MYH11 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal

28 Apr 2020, Gel status: 1

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

Rebecca Foulger (Genomics England curator)

gene: MYH11 was added gene: MYH11 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: MYH11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MYH11 were set to Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIH)