PRX Chromosome 19

Periaxin
158 variants 158 Health Risk

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What This Gene Does
This gene encodes a protein involved in peripheral nerve myelin upkeep. The encoded protein contains 2 PDZ domains which were named after PSD95 (post synaptic density protein), DlgA (Drosophila disc large tumor suppressor), and ZO1 (a mammalian tight junction protein). Two alternatively spliced transcript variants have been described for this gene which encode different protein isoforms and which are targeted differently in the Schwann cell. Mutations in this gene cause Charcot-Marie-Tooth neuoropathy, type 4F and Dejerine-Sottas neuropathy. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
PDZ domain containing
Locus Type
gene with protein product
Location
19q13.2
Ensembl
ENSG00000105227
Associated Conditions (12)
Charcot-Marie-Tooth disease type 4
Inborn genetic diseases
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4F
Tip-toe gait
PRX-related disorder
Dejerine-Sottas disease
Autosomal recessive Dejerine-Sottas syndrome
Developmental cataract
type I
Gaucher disease
Peripheral neuropathy
Key Variants
RS10425452
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4
Health Risk
RS1160407003
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4
Health Risk
RS116139153
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4
Health Risk
RS1167411868
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease
Health Risk
RS117336941
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4F, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease
Health Risk
RS1177784082
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4F, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4F
Health Risk
RS1179595016
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
Health Risk
RS1340076007
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4F, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4F
Health Risk
RS1352237419
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease
Health Risk
RS139188673
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4F, Charcot-Marie-Tooth disease
Health Risk
RS139544245
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4F, Charcot-Marie-Tooth disease type 4, Inborn genetic diseases
Health Risk
RS139624657
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease, Inborn genetic diseases
Health Risk
All Variants (158)
RSID Category Clinical Significance Conditions
RS376174896 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4F, Charcot-Marie-Tooth disease type 4, Inborn genetic diseases
RS376309142 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, PRX-related disorder
RS377184301 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4F, Inborn genetic diseases
RS550446238 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4F, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4
RS553211374 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4
RS559968504 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease
RS562108874 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4F, Charcot-Marie-Tooth disease type 4, Inborn genetic diseases
RS570264094 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4
RS577197549 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4F, Charcot-Marie-Tooth disease
RS61733448 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4F, Charcot-Marie-Tooth disease
RS745442249 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Charcot-Marie-Tooth disease type 4, Inborn genetic diseases
RS749251511 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease, Inborn genetic diseases
RS753268672 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4F, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4F
RS754081921 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease, Inborn genetic diseases
RS757247849 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4F, Charcot-Marie-Tooth disease type 4, Inborn genetic diseases
RS761277865 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4F
RS761602674 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4
RS763185527 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4F, Charcot-Marie-Tooth disease type 4, Inborn genetic diseases
RS764404206 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4
RS766124869 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS768022787 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4F, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4
RS769735682 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4F, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4F
RS770520776 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4F, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4F
RS771234852 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4
RS774726424 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4F
RS775367319 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4F, Charcot-Marie-Tooth disease type 4, Inborn genetic diseases
RS777104457 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4F, Charcot-Marie-Tooth disease
RS778983888 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS77917609 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4F, Inborn genetic diseases
RS781159482 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4F, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4F
RS886054441 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4F, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4
RS889462287 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS1064797244 Health Risk Likely pathogenic —
RS1199337390 Health Risk Likely pathogenic —
RS1555802173 Health Risk Likely pathogenic —
RS1568707185 Health Risk Likely pathogenic Tip-toe gait, Tip-toe gait
RS1599651726 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 4F, Charcot-Marie-Tooth disease type 4F
RS200483634 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 4F, Charcot-Marie-Tooth disease type 4F
RS2079426412 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 4F, Charcot-Marie-Tooth disease type 4F
RS2079511684 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4
RS2079512694 Health Risk Likely pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease
RS2079512738 Health Risk Likely pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease
RS2145726269 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS2145729505 Health Risk Likely pathogenic —
RS2145733964 Health Risk Likely pathogenic Developmental cataract, Developmental cataract
RS2514799919 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS2514803170 Health Risk Likely pathogenic —
RS2514807382 Health Risk Likely pathogenic PRX-related disorder, PRX-related disorder
RS749769987 Health Risk Likely pathogenic —
RS767591489 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
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