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Genetic epilepsy syndromes

Gene: PNPO

Green List (high evidence)

PNPO (pyridoxamine 5'-phosphate oxidase)
EnsemblGeneIds (GRCh38): ENSG00000108439
EnsemblGeneIds (GRCh37): ENSG00000108439
OMIM: 603287, Gene2Phenotype
PNPO is in 6 panels

8 reviews

Rebecca Foulger (Genomics England curator)

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

AR Pyridoxamine 5-phosphate oxidase deficiency (PNPOD). Inborn error of metabolism resulting in vit B6 defic - manifests as neonatal seizures and subsequent encephalopathy. Mills et al, 2005 - 5 patients in 3 families - homozygous missense, splice site and stop codon variants. expression studies done. Plecko et al, 2014 - 11 patients from 7 unrelated families - 3 diff biallelic mutations - 6 of the families (all derived from former Yugoslavia) carry the same hom missense variant R225H - in vitro functional studies done. Ware et al 2014- 2 unrelated boys - 2 diff hom missesne variants. No functional work.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pyridoxamine 5'-phosphate oxidase deficiency, 610090

Publications

Sarah Leigh (Genomics England Curator)

Comment on list classification: Associated with phenotype in OMIM and not in Gen2Phen. At least 6 variants identified in 12 unrelated cases
Created: 21 Jun 2018, 4:16 p.m.

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
Created: 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).
Created: 1 Nov 2017, 2:15 p.m.

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

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Expert
Phenotypes
  • Pyridoxamine 5'-phosphate oxidase deficiency, 610090
Tags
treatable
OMIM
603287
Clinvar variants
Variants in PNPO
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Nov 2019, Gel status: 3

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: PNPO were changed from to Pyridoxamine 5'-phosphate oxidase deficiency, 610090

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to PNPO.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to PNPO.

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Louise Daugherty: The disorder is fatal without

25 Jun 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

Victorian Clinical Genetics Services was added to PNPO. Panel: Genetic Epilepsy Syndromes

21 Jun 2018, Gel status: 3

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: PNPO was changed from to BIALLELIC, autosomal or pseudoautosomal

21 Jun 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: pnpo has been classified as Green List (High Evidence).

4 Apr 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

PNPO was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Red,Expert

4 Apr 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

PNPO was created by Sarah Leigh