PTRH2

peptidyl-tRNA hydrolase 2
OMIM: 608625, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Amber PTRH2 in Ataxia and cerebellar anomalies - narrow panel Level 2: Neurology Version 8.63 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Other Phenotypes Infantile-onset multisystem neurologic, endocrine, and pancreatic disease, OMIM:616263 neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1, MONDO:8000012 Tags Q3_25_promote_green
Green PTRH2 in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET, OMIM:616263
Amber PTRH2 in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.506	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS London North GLH Phenotypes Infantile-onset multisystem neurologic, endocrine, and pancreatic disease, 616263 Infantile-onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, sensory neuronal hearing loss, hepatomegaly, pancreatic insufficiency, proximal placement of thumb, SNCV neuropathy
Amber PTRH2 in Monogenic hearing loss Level 2: Audiology Version 5.57 Latest signed off version: v5.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Infantile-onset multisystem neurologic, endocrine, and pancreatic disease, OMIM:616263 neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1, MONDO:8000012 Tags Q3_25_promote_green
Amber PTRH2 in Intellectual disability Level 2: Developmental disorders Version 9.279 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Expert Review Radboud University Medical Center, Nijmegen Literature Phenotypes Infantile-onset multisystem neurologic, endocrine, and pancreatic disease, OMIM:616263 neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1, MONDO:8000012 Tags watchlist Q1_25_ promote_green
Red PTRH2 in Mitochondrial disorders Level 2: Mitochondrial Version 9.41 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy	review	Not set	Sources Expert list Phenotypes Infantile-onset multisystem neurologic, endocrine, and pancreatic disease 616263
Green PTRH2 in Hereditary ataxia with onset in adulthood Level 2: Neurology Version 8.23 Latest signed off version: v8.0 (30 Apr 2025)	review	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
Green PTRH2 in Hereditary neuropathy or pain disorder Level 2: Neurology Version 7.36 Latest signed off version: v7.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS NHS GMS London North GLH Phenotypes Infantile-onset multisystem neurologic, endocrine, and pancreatic disease, OMIM:616263 neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1, MONDO:8000012