1. Panels
  2. Hereditary Neuropathy - complex
  3. PDXK
Regions in panel
Prev Next

Hereditary Neuropathy - complex

Gene: PDXK

Green List (high evidence)
PDXK (pyridoxal kinase)
EnsemblGeneIds (GRCh38): ENSG00000160209
EnsemblGeneIds (GRCh37): ENSG00000160209
OMIM: 179020, Gene2Phenotype
PDXK is in 4 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Comment on list classification: Additional family identified
Created: 25 Feb 2021, 1:46 a.m. | Last Modified: 25 Feb 2021, 1:46 a.m.
Panel Version: 0.107
6 individuals from 3 unrelated families with biallelic variants, and supporting cellular and biochemical assays.
Sources: Literature
Created: 9 Feb 2021, 12:48 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neuropathy, hereditary motor and sensory, type VIC, with optic atrophy MIM#618511; Disorders of pyridoxine metabolism

Publications

Created: 9 Feb 2021, 12:48 a.m.

Panel version: Imported from Miscellaneous Metabolic Disorders panel version 0.337

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

5 individuals from two unrelated families, cell-based functional assays. Response to pyridoxal 5'-phosphate supplementation.
Sources: Literature
Created: 18 May 2020, 6:22 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Axonal polyneuropathy; optic atrophy

Publications

Created: 18 May 2020, 6:22 a.m.

Panel version: 0.59

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Literature
Phenotypes
  • Axonal polyneuropathy
  • optic atrophy
OMIM
179020
Clinvar variants
Variants in PDXK
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

25 Feb 2021, Gel status: 2

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: PDXK were set to 31187503

18 May 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pdxk has been classified as Amber List (Moderate Evidence).

18 May 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pdxk has been classified as Amber List (Moderate Evidence).

18 May 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PDXK was added gene: PDXK was added to Hereditary Neuropathy - complex. Sources: Literature Mode of inheritance for gene: PDXK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PDXK were set to 31187503 Phenotypes for gene: PDXK were set to Axonal polyneuropathy; optic atrophy Review for gene: PDXK was set to AMBER