PDXK

4 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 4 panels
Amber PDXK in Optic neuropathy Level 3: Posterior segment abnormalities Level 2: Ophthalmological disorders Version 4.30 Latest signed off version: v4.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neuropathy, hereditary motor and sensory, type VIC, with optic atrophy, OMIM:618511 Tags Q2_24_promote_green
Red PDXK in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.617	review	Unknown	Sources Expert Review Red Literature Phenotypes Pryridoxal kinase deficiency (Disorders of pyridoxine metabolism)
Red PDXK in Likely inborn error of metabolism - targeted testing not possible Version 4.137 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	Unknown	Sources London North GLH NHS GMS Expert Review Red Phenotypes Pryridoxal kinase deficiency (Disorders of pyridoxine metabolism)
Amber PDXK in Hereditary neuropathy or pain disorder Version 3.92 Latest signed off version: v3.24 (15 May 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neuropathy, hereditary motor and sensory, type VIC, with optic atrophy, OMIM:618511 Tags Q2_24_promote_green