Hereditary Neuropathy - complex
Gene: PTRH2EnsemblGeneIds (GRCh38): ENSG00000141378
EnsemblGeneIds (GRCh37): ENSG00000141378
OMIM: 608625, Gene2Phenotype
PTRH2 is in 5 panels
1 review
Sangavi Sivagnanasundram (Melbourne Health)
Established gene-disease associated with neuropathy present as a feature of the condition.
PMID: 25574476
two siblings from a consanguineous family diagnosed with IMNEPD. Present with ID, post natal microcephaly and other phenotypes including peripheral demyelinating sensorimotor neuropathy. A homozygous frameshift mutation was identified in both siblings (p.Ala90fs).
Mouse studies were conducted and it was determined that loss of function was the mode of pathogenesis however it was unclear whether the mouse depicted symptoms of neuropathy during examination.
PMID: 27129381
Neuropathy was only present as a phenotype in 3 individuals from 2 consanguineous families with a genetic and clinical diagnosis of IMNPED.
PMID: 28328138
3 sibs from an Arabic consanguineous family - all affected individuals with sensorineural hearing loss together with sensory and motor peripheral neuropathy.Created: 9 Aug 2023, 1:08 a.m. | Last Modified: 9 Aug 2023, 1:08 a.m.
Panel Version: 0.237
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Infantile multisystem neurologic, endocrine, and pancreatic disease (IMNPED) (MIM#616263)
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Phenotypes
-
- Infantile multisystem neurologic, endocrine, and pancreatic disease (IMNPED) (MIM#616263)
- Infantile-onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, sensory neuronal hearing loss, hepatomegaly, pancreatic insufficiency, proximal placement of thumb, SNCV neuropathy
- OMIM
- 608625
- Clinvar variants
- Variants in PTRH2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ptrh2 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: PTRH2 were changed from Infantile-onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, sensory neuronal hearing loss, hepatomegaly, pancreatic insufficiency, proximal placement of thumb, SNCV neuropathy to Infantile multisystem neurologic, endocrine, and pancreatic disease (IMNPED) (MIM#616263); Infantile-onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, sensory neuronal hearing loss, hepatomegaly, pancreatic insufficiency, proximal placement of thumb, SNCV neuropathy
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: PTRH2 were set to
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: PTRH2 was added gene: PTRH2 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: PTRH2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PTRH2 were set to Infantile-onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, sensory neuronal hearing loss, hepatomegaly, pancreatic insufficiency, proximal placement of thumb, SNCV neuropathy