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  3. PNPT1
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Likely inborn error of metabolism

Gene: PNPT1

Green List (high evidence)
PNPT1 (polyribonucleotide nucleotidyltransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000138035
EnsemblGeneIds (GRCh37): ENSG00000138035
OMIM: 610316, Gene2Phenotype
PNPT1 is in 17 panels

2 reviews

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.
Created: 2 Mar 2016, 1:49 p.m.

Panel version: Imported from Mitochondrial disorders panel version 0.461

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Created: 8 Feb 2016, 10:33 a.m.

Panel version: Imported from Mitochondrial disorders panel version 0.37

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • 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
Publications
Panels with this gene

History Filter Activity

1 Apr 2022, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: PNPT1 were changed from Deafness, autosomal recessive 70, 614934; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Combined oxidative phosphorylation deficiency 13, 614932; respiratory chain disorder; hearing loss; Disorders of mitochondrial protein import (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) 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)

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to PNPT1. Source London North GLH was added to PNPT1.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Added phenotypes Deafness, autosomal recessive 70, 614934; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Combined oxidative phosphorylation deficiency 13, 614932; respiratory chain disorder; hearing loss; Disorders of mitochondrial protein import (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) for gene: PNPT1 Publications for gene PNPT1 were changed from to 27604308

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: PNPT1 was added gene: PNPT1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PNPT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PNPT1 were set to respiratory chain disorder; Deafness, autosomal recessive 70, 614934; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Combined oxidative phosphorylation deficiency 13, 614932; hearing loss