Genes in panel

Neurodegenerative disorders - adult onset

Gene: PNPT1

Red List (low evidence)

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

0 reviews

History Filter Activity

25 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Rebecca Foulger: Gene awaiting curator evaluati

18 Dec 2018, Gel status: 1

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

Rebecca Foulger (Genomics England curator)

gene: PNPT1 was added gene: PNPT1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: PNPT1 was set to Unknown Phenotypes for gene: PNPT1 were set to Dystonia