Genomics England
GMS Panels
Panels
Genes and Entities

MYH11

myosin heavy chain 11
OMIM: 160745
PanelMode of inheritanceDetails
2 panels
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIH)
Green
in Thoracic aortic aneurysm and dissection
R-numbers: R125
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Aortic aneurysm, familial thoracic 4, 132900, Aortic aneurysm, familial thoracic 4 (132900)