Genomics England
GMS Panels
Panels
Genes and Entities

PDXK

pyridoxal kinase
OMIM: 179020
PanelMode of inheritanceDetails
2 panels
Green
in Hereditary neuropathy or pain disorder
R-numbers: R78
Signed-off version 6.163
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neuropathy, hereditary motor and sensory, type VIC, with optic atrophy, OMIM:618511
Green
in Optic neuropathy
R-numbers: R41
Signed-off version 4.40
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neuropathy, hereditary motor and sensory, type VIC, with optic atrophy, OMIM:618511