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Intellectual disability syndromic and non-syndromic

Gene: PTRH2

Green List (high evidence)

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

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

ID has now been reported in 11/14 of cases with biallelic variants
Created: 25 Apr 2024, 8:13 a.m. | Last Modified: 25 Apr 2024, 8:13 a.m.
Panel Version: 0.5782

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 MONDO:8000012

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

A spectrum of features associated with bi-allelic variants in this gene; however, ID only reported as a feature in two families.
Sources: Expert list
Created: 14 Feb 2020, 12:45 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Infantile-onset multisystem neurologic, endocrine, and pancreatic disease, MIM# 616263
OMIM
608625
Clinvar variants
Variants in PTRH2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Apr 2024, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: PTRH2 were set to 25574476; 28175314; 28328138; 25558065; 27129381

25 Apr 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

14 Feb 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ptrh2 has been classified as Amber List (Moderate Evidence).

14 Feb 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ptrh2 has been classified as Amber List (Moderate Evidence).

14 Feb 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PTRH2 was added gene: PTRH2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list Mode of inheritance for gene: PTRH2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PTRH2 were set to 25574476; 28175314; 28328138; 25558065; 27129381 Phenotypes for gene: PTRH2 were set to Infantile-onset multisystem neurologic, endocrine, and pancreatic disease, MIM# 616263 Review for gene: PTRH2 was set to AMBER