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Hearing loss

Gene: PNPT1

Green List (high evidence)

PNPT1 (polyribonucleotide nucleotidyltransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000138035
EnsemblGeneIds (GRCh37): ENSG00000138035
OMIM: 610316, Gene2Phenotype
PNPT1 is in 14 panels

3 reviews

Jun Shen (Harvard Medical School)

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

Damian Smedley (Genomics England Curator)

Comment on list classification: Good evidence from expert reviewer and OMIM
Created: 31 Jan 2016, 7:54 p.m.

Maria Bitner-Glindzicz (UCL)

Green List (high evidence)

2 families and functional evidence
Created: 14 Oct 2015, 8:30 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Details

History Filter Activity

17 Feb 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for PNPT1 were set to Combined oxidative phosphorylation deficiency 13, 614932; Deafness, autosomal recessive 70, 614934

17 Feb 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for PNPT1 were set to PMID:12419256; 12473748; 12798676; 14563561; 23084290; 23084291; 25457163

1 Feb 2016, Gel status: 4

Set Mode of Inheritance

Damian Smedley (Genomics England Curator)

Mode of inheritance for PNPT1 was changed to BIALLELIC, autosomal or pseudoautosomal

31 Jan 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

31 Jan 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

24 Jun 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

PNPT1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PNPT1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen