MYLK

myosin light chain kinase
OMIM: 600922
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Megacystis Microcolon Intestinal Hypoperistalsis Syndrome
R-numbers: R438
Signed-off version 1.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Megacystis-microcolon-intestinal hypoperistalsis syndrome 1, OMIM:249210
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