Ataxia - paediatric
Gene: PTRH2

PTRH2 (peptidyl-tRNA hydrolase 2)
EnsemblGeneIds (GRCh38): ENSG00000141378
EnsemblGeneIds (GRCh37): ENSG00000141378
OMIM: 608625, Gene2Phenotype
PTRH2 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Ataxia is part of the phenotype.
Created: 17 Apr 2020, 2:46 a.m. | Last Modified: 17 Apr 2020, 2:46 a.m.

Panel Version: 0.169

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Infantile-onset multisystem neurologic, endocrine, and pancreatic disease, MIM# 616263

Publications

Created: 17 Apr 2020, 2:46 a.m.
Last Modified: 17 Apr 2020, 2:46 a.m.
Panel version: 0.169

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Royal Melbourne Hospital

Phenotypes

Infantile multi-system neurologic, endocrine, and pancreatic disease, 616263

OMIM

608625

Clinvar variants

Variants in PTRH2

Penetrance

None

Publications

Panels with this gene

History Filter Activity

17 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ptrh2 has been classified as Green List (High Evidence).

17 Apr 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PTRH2 were set to

19 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: PTRH2 was added gene: PTRH2 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: PTRH2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PTRH2 were set to Infantile multi-system neurologic, endocrine, and pancreatic disease, 616263

Ataxia - paediatric Gene: PTRH2