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DDG2P

Gene: PNPT1

Green List (high evidence)

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

1 review

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: confirmed (for all listed disorders). Multiple MOPs in DD-G2P download: all missense/in frame, loss of function.
Created: 19 Nov 2018, 11:30 a.m.

History Filter Activity

29 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: confirm

19 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes HEARING LOSS for gene: PNPT1

19 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: PNPT1 was added gene: PNPT1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PNPT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PNPT1 were set to 23084291 Phenotypes for gene: PNPT1 were set to RESPIRATORY CHAIN DISORDER 614932