Likely inborn error of metabolism - targeted testing not possible
Gene: PINK1Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 12 variants were reported.Created: 19 Aug 2019, 3:55 p.m. | Last Modified: 19 Aug 2019, 3:55 p.m.
Panel Version: 1.235
Comment on publications: Many more publicationsCreated: 19 Aug 2019, 3:50 p.m. | Last Modified: 19 Aug 2019, 3:50 p.m.
Panel Version: 1.234
Comment on phenotypes: Mitochondrial respiratory chain disorders (caused by nuclear variants only)Created: 19 Aug 2019, 3:48 p.m. | Last Modified: 19 Aug 2019, 3:48 p.m.
Panel Version: 1.233
Gene: pink1 has been classified as Green List (High Evidence).
Publications for gene: PINK1 were set to 27604308
Phenotypes for gene: PINK1 were changed from Early onset dystonia; Parkinson disease 6, early onset (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Parkinson Disease and Complex Parkinsonism to Parkinson disease 6, early onset 605909
Source NHS GMS was added to PINK1. Source London North GLH was added to PINK1.
Sarah Leigh: Associated with relevant pheno
gene: PINK1 was added gene: PINK1 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: PINK1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PINK1 were set to 27604308 Phenotypes for gene: PINK1 were set to Early onset dystonia; Parkinson disease 6, early onset (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Parkinson Disease and Complex Parkinsonism