Parkinson Disease and Complex Parkinsonism
Gene: PTRHD1
Comment when marking as ready: Considered to have sufficient cases with a relevant phenotype for a green rating.Created: 15 May 2020, 4:17 p.m. | Last Modified: 15 May 2020, 4:17 p.m.
Panel Version: 1.68
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: OtherCreated: 15 May 2020, 4:15 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Intellectual disability; Parkinsonism
Publications
Phenotypes for gene: PTRHD1 were changed from Intellectual disability; Parkinsonism to Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities, OMIM:620747
Gene: ptrhd1 has been classified as Green List (High Evidence).
Gene: ptrhd1 has been classified as Green List (High Evidence).
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