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| Likely inborn error of metabolism - targeted testing not possible v1.235 | PINK1 | Sarah Leigh Classified gene: PINK1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.235 | PINK1 |
Sarah Leigh Added comment: Comment 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. |
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| Likely inborn error of metabolism - targeted testing not possible v1.235 | PINK1 | Sarah Leigh Gene: pink1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.234 | PINK1 | Sarah Leigh Added comment: Comment on publications: Many more publications | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.234 | PINK1 | Sarah Leigh Publications for gene: PINK1 were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.233 | PINK1 | Sarah Leigh Added comment: Comment on phenotypes: Mitochondrial respiratory chain disorders (caused by nuclear variants only) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.233 | PINK1 | Sarah Leigh 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.47 | PINK1 |
Ivone Leong Source NHS GMS was added to PINK1. Source London North GLH was added to PINK1. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | PINK1 |
Ellen McDonagh 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 |
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