Likely inborn error of metabolism - targeted testing not possible
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 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)
Source NHS GMS was added to PNPT1. Source London North GLH was added to PNPT1.
Ellen McDonagh: Comment on mode of pathogenici
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
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