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| Parkinson Disease and Complex Parkinsonism v1.121 | PTRHD1 | Arina Puzriakova Phenotypes for gene: PTRHD1 were changed from Intellectual disability; Parkinsonism to Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities, OMIM:620747 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Parkinson Disease and Complex Parkinsonism v1.68 | PTRHD1 | Helen Brittain Marked gene: PTRHD1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Parkinson Disease and Complex Parkinsonism v1.68 | PTRHD1 | Helen Brittain Added comment: Comment when marking as ready: Considered to have sufficient cases with a relevant phenotype for a green rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Parkinson Disease and Complex Parkinsonism v1.68 | PTRHD1 | Helen Brittain Gene: ptrhd1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Parkinson Disease and Complex Parkinsonism v1.68 | PTRHD1 | Helen Brittain Classified gene: PTRHD1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Parkinson Disease and Complex Parkinsonism v1.68 | PTRHD1 | Helen Brittain Gene: ptrhd1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Parkinson Disease and Complex Parkinsonism v1.67 | PTRHD1 |
Helen Brittain gene: PTRHD1 was added gene: PTRHD1 was added to Parkinson Disease and Complex Parkinsonism. Sources: Other Mode of inheritance for gene: PTRHD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PTRHD1 were set to 30398675; 27134041; 29143421; 27753167 Phenotypes for gene: PTRHD1 were set to Intellectual disability; Parkinsonism Penetrance for gene: PTRHD1 were set to Complete Review for gene: PTRHD1 was set to GREEN Added comment: Please see review in ID panel by Konstantinos Varvagiannis: https://panelapp.genomicsengland.co.uk/panels/285/gene/PTRHD1/ In addition: Personal correspondence about a new diagnosis from within the 100,000 genomes project data. A child presenting with learning difficulties, autism, shuffling gait, calf wasting and normal CK has been detected as having homozygous LOF variants in PTRHD1. Reported as class V via NHS diagnostic lab. In view of this additional case and phenotypic overlap (Intellectual disability and Parkinsonian features), I am adding this gene to the panel as green. Sources: Other |
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