Monogenic hearing loss
Gene: PNPT1EnsemblGeneIds (GRCh38): ENSG00000138035
EnsemblGeneIds (GRCh37): ENSG00000138035
OMIM: 610316, Gene2Phenotype
PNPT1 is in 17 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 OMIMCreated: 31 Jan 2016, 7:54 p.m.
Maria Bitner-Glindzicz (UCL)
2 families and functional evidenceCreated: 14 Oct 2015, 8:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- UKGTN
- Phenotypes
-
- Combined oxidative phosphorylation deficiency 13, OMIM:614932
- Deafness, autosomal recessive 70, OMIM:614934
- OMIM
- 610316
- Clinvar variants
- Variants in PNPT1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Fetal anomalies
- Intellectual disability
- White matter disorders and cerebral calcification - narrow panel
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
- Ataxia and cerebellar anomalies - narrow panel
- Likely inborn error of metabolism
- Mitochondrial disorders
- Hereditary neuropathy or pain disorder
- Hereditary ataxia with onset in adulthood
- Early onset dystonia
- DDG2P
- Early onset or syndromic epilepsy
- Adult onset dystonia, chorea or related movement disorder
- Monogenic hearing loss
- Childhood onset dystonia, chorea or related movement disorder
- Possible mitochondrial disorder - nuclear genes
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)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
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for PNPT1 were set to Combined oxidative phosphorylation deficiency 13, 614932; Deafness, autosomal recessive 70, 614934
Set publications
Ellen McDonagh (Genomics England Curator)Publications for PNPT1 were set to PMID:12419256; 12473748; 12798676; 14563561; 23084290; 23084291; 25457163
Set Mode of Inheritance
Damian Smedley (Genomics England Curator)Mode of inheritance for PNPT1 was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Damian Smedley (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Damian Smedley (Genomics England Curator)This gene has been classified as Green List (High Evidence).
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
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