Miscellaneous Metabolic Disorders
Gene: PDXKEnsemblGeneIds (GRCh38): ENSG00000160209
EnsemblGeneIds (GRCh37): ENSG00000160209
OMIM: 179020, Gene2Phenotype
PDXK is in 4 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
6 individuals from 3 unrelated families with biallelic variants, and supporting cellular and biochemical assays.
Sources: LiteratureCreated: 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
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: pdxk has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: pdxk has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: pdxk has been classified as Red List (Low Evidence).
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