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  2. Hereditary ataxia with onset in adulthood
  3. PTRH2
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Hereditary ataxia with onset in adulthood

Gene: PTRH2

Green List (high evidence)
PTRH2 (peptidyl-tRNA hydrolase 2)
EnsemblGeneIds (GRCh38): ENSG00000141378
EnsemblGeneIds (GRCh37): ENSG00000141378
OMIM: 608625, Gene2Phenotype
PTRH2 is in 8 panels

3 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Comment on phenotypes: OMIM phenotype accessed on 24 October 2025.
Created: 24 Oct 2025, 5:15 p.m. | Last Modified: 24 Oct 2025, 5:15 p.m.
Panel Version: 8.11
Created: 24 Oct 2025, 5:15 p.m.
Last Modified: 24 Oct 2025, 5:15 p.m.
Panel version: 8.11

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.
Created: 15 Apr 2019, 10:21 a.m.
Created: 15 Apr 2019, 10:21 a.m.

Panel version: 1.8

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Multiple families with the same homozygous p.Gln85Pro variant reported (founder mutation). Second consanguineous family with a frameshift variant also reported
Created: 15 Apr 2019, 10:06 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Created: 15 Apr 2019, 10:06 a.m.

Panel version: 1.7

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Infantile-onset multisystem neurologic, endocrine, and pancreatic disease, OMIM:616263
  • neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1, MONDO:8000012
OMIM
608625
Clinvar variants
Variants in PTRH2
Penetrance
None
Panels with this gene

History Filter Activity

24 Oct 2025, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: PTRH2 were changed from Infantile multi-system neurologic, endocrine, and pancreatic disease, 616263 to Infantile-onset multisystem neurologic, endocrine, and pancreatic disease, OMIM:616263; neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1, MONDO:8000012

27 Apr 2019, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

27 Apr 2019, Gel status: 1

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: PTRH2 was changed from to BIALLELIC, autosomal or pseudoautosomal

15 Apr 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Infantile multi-system neurologic, endocrine, and pancreatic disease, 616263 for gene: PTRH2

14 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to PTRH2.

14 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: PTRH2 was added gene: PTRH2 was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: PTRH2 was set to