Monogenic hearing loss
Gene: PNPT1
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
#614932:Combined oxidative phosphorylation deficiency 13[Poor growth; Liver shows mitochondrial respiratory chain deficiencies of complexes III and IV; Hypotonia, severeMuscle atrophyMuscle biopsy shows peripheral accumulation of abnormal mitochondria; EncephalomyopathyMotor regressionHypotonia, global, severeDystoniaChoreoathetosisDyskinesiaInability to sit or stand independentlyInability to hold head upLack of speechLoss of purposeful hand movementsT2-weighted hyperintensities in the putamen and caudate nuclei; HyporeflexiaDecreased nerve conduction velocities; Increased serum and CSF lactate]; #614934:Deafness, autosomal recessive 70[Hearing loss, bilateral]
Publications
Comment on list classification: Good evidence from expert reviewer and OMIMCreated: 31 Jan 2016, 7:54 p.m.
2 families and functional evidenceCreated: 14 Oct 2015, 8:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PNPT1 were changed from Combined oxidative phosphorylation deficiency 13, 614932; Deafness, autosomal recessive 70, 614934 to Combined oxidative phosphorylation deficiency 13, OMIM:614932; Deafness, autosomal recessive 70, OMIM:614934
Phenotypes for PNPT1 were set to Combined oxidative phosphorylation deficiency 13, 614932; Deafness, autosomal recessive 70, 614934
Publications for PNPT1 were set to PMID:12419256; 12473748; 12798676; 14563561; 23084290; 23084291; 25457163
Mode of inheritance for PNPT1 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
PNPT1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen
PNPT1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen