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Optic Atrophy v0.131 PDXK Bryony Thompson Publications for gene: PDXK were set to 31187503
Optic Atrophy v0.130 PDXK Bryony Thompson Classified gene: PDXK as Green List (high evidence)
Optic Atrophy v0.130 PDXK Bryony Thompson Added comment: Comment on list classification: Additional family identified
Optic Atrophy v0.130 PDXK Bryony Thompson Gene: pdxk has been classified as Green List (High Evidence).
Optic Atrophy v0.107 PDXK Zornitza Stark Marked gene: PDXK as ready
Optic Atrophy v0.107 PDXK Zornitza Stark Gene: pdxk has been classified as Amber List (Moderate Evidence).
Optic Atrophy v0.107 PDXK Zornitza Stark Classified gene: PDXK as Amber List (moderate evidence)
Optic Atrophy v0.107 PDXK Zornitza Stark Gene: pdxk has been classified as Amber List (Moderate Evidence).
Optic Atrophy v0.106 PDXK Zornitza Stark gene: PDXK was added
gene: PDXK was added to Optic Atrophy. Sources: Literature
Mode of inheritance for gene: PDXK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PDXK were set to 31187503
Phenotypes for gene: PDXK were set to Axonal polyneuropathy; optic atrophy
Review for gene: PDXK was set to AMBER
Added comment: 5 individuals from two unrelated families, cell-based functional assays. Response to pyridoxal 5'-phosphate supplementation.
Sources: Literature