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Parkinson Disease and Complex Parkinsonism

Gene: PTRHD1

Green List (high evidence)
PTRHD1 (peptidyl-tRNA hydrolase domain containing 1)
EnsemblGeneIds (GRCh38): ENSG00000184924
EnsemblGeneIds (GRCh37): ENSG00000184924
OMIM: 617342, Gene2Phenotype
PTRHD1 is in 2 panels

1 review

Helen Brittain (Genomics England Curator)

Green List (high evidence)

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: Other
Created: 15 May 2020, 4:15 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intellectual disability; Parkinsonism

Publications

Created: 15 May 2020, 4:15 p.m.

Panel version: 1.67

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities, OMIM:620747
OMIM
617342
Clinvar variants
Variants in PTRHD1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

3 Apr 2024, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: PTRHD1 were changed from Intellectual disability; Parkinsonism to Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities, OMIM:620747

15 May 2020, Gel status: 3

Entity classified by Genomics England curator

Helen Brittain (Genomics England Curator)

Gene: ptrhd1 has been classified as Green List (High Evidence).

15 May 2020, Gel status: 3

Entity classified by Genomics England curator

Helen Brittain (Genomics England Curator)

Gene: ptrhd1 has been classified as Green List (High Evidence).

15 May 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance

Helen Brittain (Genomics England Curator)

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