LRRK1:Ensemblv90

leucine rich repeat kinase 1
OMIM: 610986, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green LRRK1 in Mendeliome


Version 1.3802

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Osteosclerotic metaphyseal dysplasia (OSMD) (OMIM: 615198)

Green LRRK1 in Osteopetrosis


Level 2: Skeletal disorders
Version 0.98

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
  • Expert Review
Phenotypes
  • Osteosclerotic metaphyseal dysplasia (OSMD) (OMIM: 615198)

Green LRRK1 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.365

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Osteosclerotic metaphyseal dysplasia (OSMD) (OMIM: 615198)

Green LRRK1 in Osteopetrosis


Level 2: Skeletal disorders
Version 1.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review
  • Expert Review Green
Phenotypes
  • Osteosclerotic metaphyseal dysplasia (OSMD) (OMIM: 615198)

Green LRRK1 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Osteosclerotic metaphyseal dysplasia (OSMD) (OMIM: 615198)