Genomics England
GMS Panels
Panels
Genes and Entities

MYH11

myosin heavy chain 11
OMIM: 160745
PanelMode of inheritanceDetails
4 panels
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIH)
Green
in Paediatric disorders - additional genes
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 OMIM:619351, MONDO:0025708
Green
in Paediatric pseudo-obstruction syndrome
R-numbers: R438
Signed-off version 2.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Megacystis-microcolon-intestinal hypoperistalsis syndrome 2, OMIM:619351, Visceral myopathy 2, OMIM:619350
Green
in Thoracic aortic aneurysm or dissection (GMS)
R-numbers: R125
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Aortic aneurysm, familial thoracic 4, 132900, Aortic aneurysm, familial thoracic 4 (132900)