Miscellaneous Metabolic Disorders

Gene: PDXK

Green List (high evidence)

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

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neuropathy, hereditary motor and sensory, type VIC, with optic atrophy MIM#618511
  • Disorders of pyridoxine metabolism
OMIM
179020
Clinvar variants
Variants in PDXK
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 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).

9 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).

9 Feb 2021, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: pdxk has been classified as Red List (Low Evidence).

9 Feb 2021, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: PDXK was added gene: PDXK was added to Miscellaneous Metabolic Disorders. Sources: Literature Mode of inheritance for gene: PDXK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PDXK were set to 32522499; 31187503; 27604308 Phenotypes for gene: PDXK were set to Neuropathy, hereditary motor and sensory, type VIC, with optic atrophy MIM#618511; Disorders of pyridoxine metabolism Review for gene: PDXK was set to GREEN