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Skeletal dysplasia

Gene: LRRK1

Green List (high evidence)

LRRK1 (leucine rich repeat kinase 1)
EnsemblGeneIds (GRCh38): ENSG00000154237
EnsemblGeneIds (GRCh37): ENSG00000154237
OMIM: 610986, Gene2Phenotype
LRRK1 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least 4 unrelated families reported.
Sources: Expert Review
Created: 24 Sep 2021, 10:27 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Osteosclerotic metaphyseal dysplasia (OSMD) (OMIM: 615198)

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Osteosclerotic metaphyseal dysplasia (OSMD) (OMIM: 615198)
OMIM
610986
Clinvar variants
Variants in LRRK1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Sep 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lrrk1 has been classified as Green List (High Evidence).

24 Sep 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lrrk1 has been classified as Green List (High Evidence).

24 Sep 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: LRRK1 was added gene: LRRK1 was added to Skeletal dysplasia. Sources: Expert Review Mode of inheritance for gene: LRRK1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LRRK1 were set to 27829680; 27055475; 31571209; 32119750 Phenotypes for gene: LRRK1 were set to Osteosclerotic metaphyseal dysplasia (OSMD) (OMIM: 615198) Review for gene: LRRK1 was set to GREEN