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Inborn errors of metabolism

Gene: PDXK

Red List (low evidence)

PDXK (pyridoxal kinase)
EnsemblGeneIds (GRCh38): ENSG00000160209
EnsemblGeneIds (GRCh37): ENSG00000160209
OMIM: 179020, Gene2Phenotype
PDXK is in 2 panels

1 review

Olivia Niblock (Genomics England Curator)

Red List (low evidence)

No phenotype associated with this gene in OMIM, Ensembl or G2P
Created: 23 Feb 2017, 5:15 p.m.

Mode of inheritance
Unknown

Phenotypes
Pryridoxal kinase deficiency (Disorders of pyridoxine metabolism)

Publications

Details

Mode of Inheritance
Unknown
Sources
  • London North GLH
  • NHS GMS
Phenotypes
  • Pryridoxal kinase deficiency (Disorders of pyridoxine metabolism)
OMIM
179020
Clinvar variants
Variants in PDXK
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 1

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to PDXK. Source London North GLH was added to PDXK.

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: PDXK was added gene: PDXK was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: PDXK was set to Unknown Publications for gene: PDXK were set to 27604308 Phenotypes for gene: PDXK were set to Pryridoxal kinase deficiency (Disorders of pyridoxine metabolism)