Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Genetic Epilepsy

Gene: PNPT1

Green List (high evidence)

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

4 reviews

Arina Puzriakova (Genomics England)

Green List (high evidence)

6 additional unrelated cases identified by Pennisi et al., 2022 (PMID: 33199448) with biallelic variants in this gene.
Created: 1 Apr 2022, 10:25 a.m. | Last Modified: 1 Apr 2022, 10:25 a.m.
Panel Version: 0.12453

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 13, OMIM:614932

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 13, MIM# 614932

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID:33158637
1x homozygous (c.1399C > T, p.Pro467Ser) in an individual who presented with a phenotype similar to Aicardi-Goutieres Syndrome. She presented with feeding difficulties and vomiting, muscle weakness, and hyperexcitability, accompanied by a sterile febrile episode. Later developed refractory focal impaired awareness and pharmaco-refractory generalized seizures.

PMID: 31752325
7 presented with seizures (out of 21 for whom clinical info was available)
Sources: Literature
Created: 11 Oct 2021, 2:32 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

Biallelic variants reported in patients with a wide clinical heterogeneity ranging from non-syndromic hearing loss to multisystemic Leigh syndrome.

Possible genotype-phenotype correlation: Combination of missense and a null allele resulting in less residual activity present with white matter abnormalities. Patients with only missense variants did not have white matter abnormalities (PMID: 28594066)
Created: 20 Feb 2020, 9:56 p.m. | Last Modified: 20 Feb 2020, 9:56 p.m.
Panel Version: 0.1415

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Combined oxidative phosphorylation deficiency 13, MIM# 614932
OMIM
610316
Clinvar variants
Variants in PNPT1
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

11 Oct 2021, 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).

11 Oct 2021, 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

11 Oct 2021, 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).

11 Oct 2021, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set penetrance

Ain Roesley (Victorian Clinical Genetics Services)

gene: PNPT1 was added gene: PNPT1 was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: PNPT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PNPT1 were set to 33158637; 31752325 Penetrance for gene: PNPT1 were set to unknown Review for gene: PNPT1 was set to GREEN