Possible mitochondrial disorder - nuclear genes
Gene: PNPT1
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
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.
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)
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