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Epileptic encephalopathy

Gene: PNPO

Red List (low evidence)

PNPO (pyridoxamine 5'-phosphate oxidase)
EnsemblGeneIds (GRCh38): ENSG00000108439
EnsemblGeneIds (GRCh37): ENSG00000108439
OMIM: 603287, Gene2Phenotype
PNPO is in 7 panels

5 reviews

Amy McTague (UCL Institute of Child Health)

Red List (low evidence)

Natalie Trump (NHS - Great Ormond Street Hospital)

Red List (low evidence)

Manju Kurian (UCL-Institute of Child Health)

Red List (low evidence)

Richard Scott (North Thames GMC/UCL)

Red List (low evidence)

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

added treatable tag see PMIDs 24266778, 24658933,15772097
1 Nov 2017, 2:17 p.m.
The disorder is fatal without treatment. Early treatment is important to decrease the chance of long term developmental delays. Some babies with early treatment have developed normally without any intellectual disabilities. There are less than 50 known cases of pyridoxal 5'-phosphate-dependent epilepsy (25296925, 26535729).
1 Nov 2017, 2:15 p.m.

Phenotypes
Pyridoxamine 5'-phosphate oxidase deficiency, 610090; Neonatal epileptic encephalopathy

Publications

History Filter Activity

1 Nov 2017, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for PNPO were set to 24658933; 28818555; 22196487; 21704546; 25296925; 26535729; 15772097; 24266778; 24658933

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PNPO was added to Epileptic encephalopathypanel. Source: Expert Review Red

13 Nov 2015, Gel status: 0

gel status update

GEL ()

The Gel status was updated for this whole panel

1 Jul 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

PNPO was added to Epileptic encephalopathypanel. Sources: Expert