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
RS10425452 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4
RS1160407003 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4
RS116139153 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4
RS1167411868 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease
RS117336941 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4F, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease
RS1177784082 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4F, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4F
RS1179595016 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS1340076007 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4F, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4F
RS1352237419 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease
RS139188673 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4F, Charcot-Marie-Tooth disease
RS139544245 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4F, Charcot-Marie-Tooth disease type 4, Inborn genetic diseases
RS139624657 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease, Inborn genetic diseases
RS140880177 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4F, Charcot-Marie-Tooth disease type 4
RS141686828 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4F, Charcot-Marie-Tooth disease
RS142064826 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4F, Inborn genetic diseases
RS142436391 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease, Inborn genetic diseases
RS142637195 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4F, Charcot-Marie-Tooth disease type 4, Inborn genetic diseases
RS142762689 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4F, Charcot-Marie-Tooth disease
RS144157275 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4F, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4
RS144305922 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4F, Dejerine-Sottas disease, Charcot-Marie-Tooth disease type 4
RS144975214 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4F, Inborn genetic diseases
RS145203783 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4F, Inborn genetic diseases
RS145226687 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4F, Inborn genetic diseases
RS145856805 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4
RS146061247 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4F, Charcot-Marie-Tooth disease
RS146205352 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, PRX-related disorder
RS146323928 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4F, Charcot-Marie-Tooth disease
RS147587689 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4F
RS147826200 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4F
RS148600818 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4
RS148939995 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4F
RS149183991 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4
RS149715830 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4F
RS150244426 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease, Inborn genetic diseases
RS150772010 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4F, Inborn genetic diseases
RS1555800819 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4
RS1599655206 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4F, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4F
RS1599656972 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4F, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4F
RS185112635 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease, PRX-related disorder
RS186086914 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS188765166 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4F, Charcot-Marie-Tooth disease
RS200033507 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4F, Tip-toe gait
RS202065092 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS202119177 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4F, Charcot-Marie-Tooth disease
RS281865061 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4F, Dejerine-Sottas disease, Autosomal recessive Dejerine-Sottas syndrome
RS367716653 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4F, Charcot-Marie-Tooth disease type 4F
RS367876251 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4F, Inborn genetic diseases
RS368481955 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Tip-toe gait, Charcot-Marie-Tooth disease type 4
RS371438221 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4
RS372280596 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4F, Inborn genetic diseases
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