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Early-onset Parkinson disease

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 3 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities, MIM# 620747

Created: 15 Mar 2024, 4:59 a.m.
Last Modified: 15 Mar 2024, 4:59 a.m.
Panel version: 0.294

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Homozygous variants segregate in three unrelated families from Iran and South Africa. No functional assays conducted.
Sources: Expert list
Created: 26 Mar 2020, 5:07 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
early-onset parkinsonism; intellectual disability

Publications

Created: 26 Mar 2020, 5:07 a.m.

Panel version: 0.21

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities, MIM# 620747
OMIM
617342
Clinvar variants
Variants in PTRHD1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Mar 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PTRHD1 were changed from early-onset parkinsonism; intellectual disability to Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities, MIM# 620747

26 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

26 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

26 Mar 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: PTRHD1 was added gene: PTRHD1 was added to Early onset Parkinson disease. Sources: Expert list Mode of inheritance for gene: PTRHD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PTRHD1 were set to 27753167; 27134041; 30398675; 29143421 Phenotypes for gene: PTRHD1 were set to early-onset parkinsonism; intellectual disability Review for gene: PTRHD1 was set to GREEN