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Mendeliome

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Infantile-onset multisystem neurologic, endocrine, and pancreatic disease-1 (IMNEPD1) is an autosomal recessive multisystemic disorder with variable expressivity. The core features usually include global developmental delay with impaired intellectual development and speech delay, ataxia, sensorineural hearing loss, and pancreatic insufficiency. Additional features may include peripheral neuropathy, postnatal microcephaly, dysmorphic facial features, and cerebellar atrophy.

More than 5 unrelated families reported. The Q85P missense variant is reported in several families, likely founder effect.
Created: 14 Apr 2022, 10:26 a.m. | Last Modified: 14 Apr 2022, 10:26 a.m.
Panel Version: 0.12922

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
  • Victorian Clinical Genetics Services
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

14 Apr 2022, 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).

14 Apr 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PTRH2 were changed from to Infantile-onset multisystem neurologic, endocrine, and pancreatic disease, MIM# 616263

14 Apr 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PTRH2 were set to

14 Apr 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PTRH2 was added gene: PTRH2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PTRH2 was set to Unknown