Incidentalome

Gene: LRRK2

Green List (high evidence)

Multiple mice models and drosophilla studies were conducted to determine the mode of pathogenicity and is a well known gene to cause Parkinsons Disease type 8.

(PMID: 17200152) overactivity of LRRK2 – via GTPase binding activity of the LRRK2 protein; showed that an increased kinase activity to the mutant cells were toxic.

PMID: 15541308 – 2 variants identified across 5 individuals from 2 families that was found to segregation across generations. LRRK2 is referred to as DKFZp434H2111 in the article.
PMID: 16172858 – 7 unrelated individuals with heterozygous mutations causative of Parkinsons Disease.

Created: 30 Mar 2023, 2:42 a.m. | Last Modified: 30 Mar 2023, 2:42 a.m.

Panel Version: 0.226

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Parkinson Disease type 8 (MONDO:0005180; MIM#607060)

Publications

• 20301387
• 17200152
• 15541308
• 16172858

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Green List (high evidence)

Cognitive impairment reported in a mouse model and dementia or cognitive decline reported in at least 3 cases.

Created: 6 Feb 2020, 4:56 a.m. | Last Modified: 6 Feb 2020, 4:56 a.m.

Panel Version: 0.6

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Parkinson disease 8 MIM#607060

Publications

• 17060595
• 31038182
• 27521182
• 28487191