Gene "SIPA1L2"
Found 4 records
Gene information
Gene symbol:
SIPA1L2
See related:
Ensembl: ENSG00000116991, Gene ID: 57568
Additive variants :
Undetected
Genetic interaction partners
No data
Modifier statisitcs
Record:
4 
Disorder:
1 
Vriant:
4 
Reference:
1 
Effect type:
Expressivity(4)  
Modifier effect:
Altered foot dorsiflexion strength(4)  
Details：
  • Variant 1:
    SIPA1L2:c.3642+443G>T
    Gene:
    SIPA1L2
    Genomic location:
    chr1:232576594
    dbSNP ID:
    rs1547740
    Target disease:
    Charcot-Marie-Tooth Disease Type 1A(DOID_0110148)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered foot dorsiflexion strength 
    Evidence:
    P<1×10(-7) 
    Effect:
    SIPA1L2 is a potential genetic modifier of CMT1A phenotypic expressions and offers a new pathway to therapeutic interventions
    Reference:
    PMID30706531
    Title:
    Variation in SIPA1L2 is correlated with phenotype modification in Charcot- Marie- Tooth disease type 1A.
    Species studied:
    Human
    Abstract:
    Genetic modifiers in rare disease have long been suspected to contribute to the considerable variance in disease expression, including Charcot-Marie-Tooth disease type 1A (CMT1A). To address this question, the Inherited Neuropathy Consortium collected a large standardized sample of such rare CMT1A patients over a period of 8years. CMT1A is caused in most patients by a uniformly sized 1.5Mb duplication event involving the gene PMP22.
  • Variant 2:
    SIPA1L2:c.3095+4708T>G
    Gene:
    SIPA1L2
    Genomic location:
    chr1:232591925
    dbSNP ID:
    rs4649265
    Target disease:
    Charcot-Marie-Tooth Disease Type 1A(DOID_0110148)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered foot dorsiflexion strength 
    Evidence:
    P<1×10(-7) 
    Effect:
    SIPA1L2 is a potential genetic modifier of CMT1A phenotypic expressions and offers a new pathway to therapeutic interventions
    Reference:
    PMID30706531
    Title:
    Variation in SIPA1L2 is correlated with phenotype modification in Charcot- Marie- Tooth disease type 1A.
    Species studied:
    Human
    Abstract:
    Genetic modifiers in rare disease have long been suspected to contribute to the considerable variance in disease expression, including Charcot-Marie-Tooth disease type 1A (CMT1A). To address this question, the Inherited Neuropathy Consortium collected a large standardized sample of such rare CMT1A patients over a period of 8years. CMT1A is caused in most patients by a uniformly sized 1.5Mb duplication event involving the gene PMP22.
  • Variant 3:
    SIPA1L2:c.2820+1397G>A
    Gene:
    SIPA1L2
    Genomic location:
    chr1:232599189
    dbSNP ID:
    rs10910527
    Target disease:
    Charcot-Marie-Tooth Disease Type 1A(DOID_0110148)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered foot dorsiflexion strength 
    Evidence:
    P<1×10(-7) 
    Effect:
    SIPA1L2 is a potential genetic modifier of CMT1A phenotypic expressions and offers a new pathway to therapeutic interventions
    Reference:
    PMID30706531
    Title:
    Variation in SIPA1L2 is correlated with phenotype modification in Charcot- Marie- Tooth disease type 1A.
    Species studied:
    Human
    Abstract:
    Genetic modifiers in rare disease have long been suspected to contribute to the considerable variance in disease expression, including Charcot-Marie-Tooth disease type 1A (CMT1A). To address this question, the Inherited Neuropathy Consortium collected a large standardized sample of such rare CMT1A patients over a period of 8years. CMT1A is caused in most patients by a uniformly sized 1.5Mb duplication event involving the gene PMP22.
  • Variant 4:
    SIPA1L2:c.2244-46T>C
    Gene:
    SIPA1L2
    Genomic location:
    chr1:232601208
    dbSNP ID:
    rs7536385
    Target disease:
    Charcot-Marie-Tooth Disease Type 1A(DOID_0110148)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered foot dorsiflexion strength 
    Evidence:
    P<1×10(-7) 
    Effect:
    SIPA1L2 is a potential genetic modifier of CMT1A phenotypic expressions and offers a new pathway to therapeutic interventions
    Reference:
    PMID30706531
    Title:
    Variation in SIPA1L2 is correlated with phenotype modification in Charcot- Marie- Tooth disease type 1A.
    Species studied:
    Human
    Abstract:
    Genetic modifiers in rare disease have long been suspected to contribute to the considerable variance in disease expression, including Charcot-Marie-Tooth disease type 1A (CMT1A). To address this question, the Inherited Neuropathy Consortium collected a large standardized sample of such rare CMT1A patients over a period of 8years. CMT1A is caused in most patients by a uniformly sized 1.5Mb duplication event involving the gene PMP22.