Childhood onset dystonia, chorea or related movement disorder
Gene: PNPT1

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

4 reviews

Eleanor Williams (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Created: 30 Jan 2023, 6:27 p.m. | Last Modified: 30 Jan 2023, 6:33 p.m.

Panel Version: 2.10

Created: 30 Jan 2023, 6:27 p.m.
Last Modified: 30 Jan 2023, 6:33 p.m.
Panel version: 2.10

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

Comment on list classification: Upgraded from Red to Amber but there are sufficient unrelated cases to rate this gene as Green at the next GMS review.
Created: 1 Apr 2022, 9 a.m. | Last Modified: 1 Apr 2022, 9 a.m.

Panel Version: 1.224

Pennisi et al., 2022 (PMID: 33199448) identified 4 unrelated patients with different biallelic variants in this gene who displayed dystonia (onset from 5 months to 4 years of age) among other features. As movement abnormalities are a possible early feature of disease it is plausible that some patients may be tested under this panel.
Created: 1 Apr 2022, 8:59 a.m. | Last Modified: 1 Apr 2022, 8:59 a.m.

Panel Version: 1.222

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 13, OMIM:614932

Publications

33199448

Created: 1 Apr 2022, 8:59 a.m.
Last Modified: 1 Apr 2022, 8:59 a.m.
Panel version: 1.225

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Red List (low evidence)

Created: 9 Jul 2019, 4:25 p.m.
Last Modified: 9 Jul 2019, 4:25 p.m.
Panel version: Imported from GMS Neurology specialist test group-Movement disorders - childhood onset-LNGLH_v2 panel version 0.9

Emily Jones (North Bristol NHS Trust)

Red List (low evidence)

23084291 descibes one family (2 children) with homozygous variant and features that included dystonic and choreoathetotic movements.
Created: 9 Jul 2019, 3:59 p.m. | Last Modified: 9 Jul 2019, 3:59 p.m.

Panel Version: 0.10

Created: 9 Jul 2019, 3:59 p.m.
Last Modified: 9 Jul 2019, 3:59 p.m.
Panel version: Imported from GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH panel version 0.10

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Green
South West GLH
London North GLH

Phenotypes

Combined oxidative phosphorylation deficiency 13, OMIM:614932
Dystonia

OMIM

610316

Clinvar variants

Variants in PNPT1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

30 Jan 2023, Gel status: 3

Removed Tag

Eleanor Williams (Genomics England Curator)

Tag Q1_22_rating was removed from gene: PNPT1.

30 Jan 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source Expert Review Green was added to PNPT1. Source NHS GMS was added to PNPT1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

1 Apr 2022, Gel status: 2