Genes in panel

Adult onset movement disorder

Gene: PNPT1

Red List (low evidence)

PNPT1 (polyribonucleotide nucleotidyltransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000138035
EnsemblGeneIds (GRCh37): ENSG00000138035
OMIM: 610316, Gene2Phenotype
PNPT1 is in 14 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels - Early onset dystonia (v1.76, code 192) - Parkinson Disease and Complex Parkinsonism (v1.64, code 39) - Brain channelopathy (v1.48, code 90) - Structural basal ganglia disorders (v1.10, code 180). This gene was RED and external expert review from South West GLH for GMS Neurology specialist test group for R56 agrees this gene should remain RED
Created: 19 Jun 2019, 4:44 p.m.
Review and rating from Emily Jones (North Bristol NHS Trust) on behalf of South West GLH for GMS Neurology specialist test group.
Created: 23 Apr 2019, 12:18 p.m.

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: 23 Apr 2019, 12:14 p.m.

Phenotypes
Combined oxidative phosphorylation deficiency 13, 614932

Publications

History Filter Activity

23 Apr 2019, Gel status: 1

Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Added phenotypes Combined oxidative phosphorylation deficiency 13, 614932 for gene: PNPT1 Publications for gene PNPT1 were changed from to 30046113; 23084291

23 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to PNPT1.

23 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to PNPT1.

3 Jan 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: PNPT1 was added gene: PNPT1 was added to Adult onset movement disorder. Sources: Expert Review Red Mode of inheritance for gene: PNPT1 was set to Phenotypes for gene: PNPT1 were set to Dystonia