Genomics England
GMS Panels
Panels
Genes and Entities

LRRK1

leucine rich repeat kinase 1
OMIM: 610986
PanelMode of inheritanceDetails
1 panel
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Osteosclerotic metaphyseal dysplasia (OSMD), OMIM: 615198, Osteosclerotic metaphyseal dysplasia, MONDO:0014080