Mitochondrial disorders
Gene: PNPT1Comment 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 Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Combined oxidative phosphorylation deficiency 13, 614932; Deafness, autosomal recessive 70, 614934; respiratory chain disorder; hearing loss 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)
Victorian Clinical Genetics Services was added to PNPT1. Panel: Mitochondrial disorders
This gene has been classified as Green List (High Evidence).
Phenotypes for PNPT1 were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Combined oxidative phosphorylation deficiency 13, 614932; Deafness, autosomal recessive 70, 614934; respiratory chain disorder; hearing loss
Mode of inheritance for PNPT1 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
PNPT1 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
PNPT1 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
PNPT1 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen