Possible mitochondrial disorder - nuclear genes
Gene: PNPT1EnsemblGeneIds (GRCh38): ENSG00000138035
EnsemblGeneIds (GRCh37): ENSG00000138035
OMIM: 610316, Gene2Phenotype
PNPT1 is in 17 panels
3 reviews
Ivone Leong (Genomics England Curator)
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.Created: 4 Feb 2019, 1:36 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined oxidative phosphorylation deficiency 13, 614932; Deafness, autosomal recessive 70, 614934
Ellen McDonagh (Genomics England Curator)
Comment on mode of inheritance: Confirmed on G2P and OMIM.Created: 2 Mar 2016, 1:50 p.m.
Comment on list classification: Promoted from red to green due to expert review, and it is a confirmed DD gene for respiratory chain disorder and hearing loss.Created: 2 Mar 2016, 1:49 p.m.
Shamima Rahman (UCL Institute of Child Health)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Combined oxidative phosphorylation deficiency 13, OMIM:614932
- Deafness, autosomal recessive 70, OMIM:614934
- Disorders of mitochondrial protein import (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
- Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
- OMIM
- 610316
- Clinvar variants
- Variants in PNPT1
- Penetrance
- None
- Panels with this gene
-
- Adult onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
- DDG2P
- Fetal anomalies
- Adult onset neurodegenerative disorder
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Hereditary neuropathy or pain disorder
- Early onset dystonia
- Ataxia and cerebellar anomalies - narrow panel
- Possible mitochondrial disorder - nuclear genes
- Monogenic hearing loss
- Early onset or syndromic epilepsy
- Undiagnosed metabolic disorders
- White matter disorders and cerebral calcification - narrow panel
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: PNPT1 were changed from Deafness, autosomal recessive 70, 614934; Combined oxidative phosphorylation deficiency 13, 614932 to Combined oxidative phosphorylation deficiency 13, OMIM:614932; Deafness, autosomal recessive 70, OMIM:614934; Disorders of mitochondrial protein import (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: PNPT1 was added gene: PNPT1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: PNPT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PNPT1 were set to Deafness, autosomal recessive 70, 614934; Combined oxidative phosphorylation deficiency 13, 614932