Genes in panel

Ataxia and cerebellar anomalies - narrow panel

Gene: PTRH2

No list

PTRH2 (peptidyl-tRNA hydrolase 2)
EnsemblGeneIds (GRCh38): ENSG00000141378
EnsemblGeneIds (GRCh37): ENSG00000141378
OMIM: 608625, Gene2Phenotype
PTRH2 is in 6 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

New gene suggested by Genomics England clinical team memeber- unable to do a full curational review (Green rating recommended) as we are waiting for new PanelApp features before this gene can be added to this GMS panel.
Created: 22 Jan 2020, 11:46 a.m. | Last Modified: 22 Jan 2020, 11:46 a.m.
Panel Version: 2.0

Ellen Thomas (Genomics England Curator)

Green List (high evidence)

Currently on adult ataxia panel; more suitable for childhood onset panel
Sources: Other
Created: 12 Dec 2019, 10:02 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Infantile-onset multisystem neurologic, endocrine, and pancreatic disease

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Infantile-onset multisystem neurologic, endocrine, and pancreatic disease
OMIM
608625
Clinvar variants
Variants in PTRH2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Dec 2019, Gel status: 0

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

Ellen Thomas (Genomics England Curator)

gene: PTRH2 was added gene: PTRH2 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Other Mode of inheritance for gene: PTRH2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PTRH2 were set to 25574476; 28328138 Phenotypes for gene: PTRH2 were set to Infantile-onset multisystem neurologic, endocrine, and pancreatic disease