1. Panels
  2. Deafness_IsolatedAndComplex
  3. PNPT1
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Deafness_IsolatedAndComplex

Gene: PNPT1

Green List (high evidence)
PNPT1 (polyribonucleotide nucleotidyltransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000138035
EnsemblGeneIds (GRCh37): ENSG00000138035
OMIM: 610316, Gene2Phenotype
PNPT1 is in 7 panels

2 reviews

Lilian Downie (Victorian Clinical Genetics Services)

I don't know

Additional case of 3 sibs presenting with non syndromic hearing loss in childhood with neurdegenerative phenotype in 40's/50's
Created: 6 Jul 2020, 11:13 a.m. | Last Modified: 6 Jul 2020, 11:13 a.m.
Panel Version: 0.358

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Created: 6 Jul 2020, 11:13 a.m.
Last Modified: 6 Jul 2020, 11:13 a.m.
Panel version: 0.358

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Comment when marking as ready: Evidence for gene-disease association rated as LIMITED by ClinGen. However, note deafness is also a feature of the multi-system, Leigh-like disorder caused by bi-allelic PNPT1 variants and therefore rated as Green.
Created: 28 Jan 2020, 10:59 p.m. | Last Modified: 28 Jan 2020, 10:59 p.m.
Panel Version: 0.249
Single family with homozygous variant in this gene reported initially associating gene with deafness. However, note that gene can also cause a Leigh-like multi system disorder, and in a recent cohort, deafness was a feature in ~40% of affected individuals.
Created: 28 Jan 2020, 10:55 p.m. | Last Modified: 28 Jan 2020, 10:55 p.m.
Panel Version: 0.246

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 13, MIM#614932; Deafness, autosomal recessive 70, MIM#614934

Publications

Created: 28 Jan 2020, 10:55 p.m.
Last Modified: 28 Jan 2020, 10:55 p.m.
Panel version: 0.360

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Combined oxidative phosphorylation deficiency 13, MIM#614932
  • Deafness, autosomal recessive 70, MIM#614934
OMIM
610316
Clinvar variants
Variants in PNPT1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Jul 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PNPT1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal

6 Jul 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PNPT1 were set to 23084290; 31752325

28 Jan 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PNPT1 were changed from Combined oxidative phosphorylation deficiency 13, MIM#614932; Deafness, autosomal recessive 70, MIM#614934 to Combined oxidative phosphorylation deficiency 13, MIM#614932; Deafness, autosomal recessive 70, MIM#614934

28 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pnpt1 has been classified as Green List (High Evidence).

28 Jan 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PNPT1 were set to

28 Jan 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PNPT1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

28 Jan 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PNPT1 were changed from to Combined oxidative phosphorylation deficiency 13, MIM#614932; Deafness, autosomal recessive 70, MIM#614934

28 Jan 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PNPT1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

28 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pnpt1 has been classified as Green List (High Evidence).

28 Jan 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pnpt1 has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PNPT1 was added gene: PNPT1 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship Mode of inheritance for gene: PNPT1 was set to Unknown