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Fetal anomalies

Gene: PNPT1

Red List (low evidence)
PNPT1 (polyribonucleotide nucleotidyltransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000138035
EnsemblGeneIds (GRCh37): ENSG00000138035
OMIM: 610316, Gene2Phenotype
PNPT1 is in 17 panels

3 reviews

Ida Ertmanska (Genomics England Curator)

This gene and phenotype were reviewed during meetings in July and August 2026. The meetings included representatives of the North Thames and Central and South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Louise Carr (North Thames GLH), Sarah Graham & Elizabeth Young (Central & South GLH), and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Sunayna Best, Soo-Mi Park & Tessa Homfray (R21 Clinical Oversight Group).
Created: 29 Oct 2026, 4:13 p.m. | Last Modified: 29 Oct 2026, 4:13 p.m.
Panel Version: 8.26
Created: 29 Oct 2026, 4:13 p.m.
Last Modified: 29 Oct 2026, 4:13 p.m.
Panel version: 8.26

Beth Young (West Midlands Regional Genetics Laboratory)

Red List (low evidence)

Single prenatal case report of onset in perinatal period. IUGR was noted prenatally (Birth weight, length and head circumference were at 3rd, <3rd and 10th percentiles, respectively). R21 SGA criteria is AC _ HC <3rd centile. MRI at D8 of life showed severe reduced brain volume. MRI at 6-months showed brain atrophy, thin corpus callosum, reduced brainstem volume.
Created: 29 Oct 2026, 3:51 p.m. | Last Modified: 29 Oct 2026, 3:51 p.m.
Panel Version: 8.25

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
combined oxidative phosphorylation defect type 13, MONDO:0013977; Combined oxidative phosphorylation deficiency 13, OMIM:614932

Publications

Created: 29 Oct 2026, 3:51 p.m.
Last Modified: 29 Oct 2026, 3:51 p.m.
Panel version: 8.25

Rebecca Foulger (Genomics England curator)

Red List (low evidence)

This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.
Created: 25 Jul 2019, 8:04 a.m. | Last Modified: 25 Jul 2019, 8:04 a.m.
Panel Version: 0.311
DDG2P rating in original PAGE list: Confirmed for RESPIRATORY CHAIN DISORDER and Confirmed for HEARING LOSS.
Created: 11 Dec 2018, 9:05 a.m.
In the original PAGE file, MOP listed as LOF for RESPIRATORY CHAIN DISORDER, and listed as All missense/in frame for HEARING LOSS.
Created: 8 Nov 2018, 4:45 p.m.
Created: 8 Nov 2018, 4:45 p.m.

Panel version: 0.311

History Filter Activity

29 Oct 2026, Gel status: 1

Added New Source, Set Phenotypes, Set publications

Ida Ertmanska (Genomics England Curator)

Source NHS GMS was added to PNPT1. Added phenotypes combined oxidative phosphorylation defect type 13, MONDO:0013977; Combined oxidative phosphorylation deficiency 13, OMIM:614932 for gene: PNPT1 Publications for gene: PNPT1 were updated from to 37861028

25 Jul 2019, Gel status: 1

Added New Source, Status Update

Rebecca Foulger (Genomics England curator)

Source Expert Review Red was added to PNPT1. Rating Changed from Green List (high evidence) to Red List (low evidence)

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes HEARING LOSS for gene: PNPT1

8 Nov 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: PNPT1 was added gene: PNPT1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PNPT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PNPT1 were set to RESPIRATORY CHAIN DISORDER