Genomics England
GMS Panels
Panels
Genes and Entities

MYLK

myosin light chain kinase
OMIM: 600922
PanelMode of inheritanceDetails
2 panels
Green
in Paediatric pseudo-obstruction syndrome
R-numbers: R438
Signed-off version 1.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Megacystis-microcolon-intestinal hypoperistalsis syndrome 1, OMIM:249210
Green
in Thoracic aortic aneurysm or dissection (GMS)
R-numbers: R125
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Aortic aneurysm, familial thoracic 7 (613780), Aortic aneurysm, familial thoracic 7, 613780