Gene "TTC21B"
Found 4 records
Gene information
Gene symbol:
TTC21B
See related:
Ensembl: ENSG00000123607, Gene ID: 79809
Additive variants :
Undetected
Genetic interaction partners
No data
Modifier statisitcs
Record:
4 
Disorder:
2 
Vriant:
2 
Reference:
1 
Effect type:
Expressivity(4)  
Modifier effect:
Altered severity(4)  
Details：
  • Variant 1:
    TTC21B:p.Pro209Leu
    Gene:
    TTC21B
    Genomic location:
    dbSNP ID:
    Target disease:
    Glomerulonephritis(DOID_2921)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered severity 
    Evidence:
    P=0.0349 
    Effect:
    Heterozygous deleterious TTC21B variants may act as genetic modifiers of the severity of glomerular and cystic kidney diseases.
    Reference:
    PMID26940125
    Title:
    Contribution of the TTC21B gene to glomerular and cystic kidney diseases.
    Species studied:
    Human
    Abstract:
    The TTC21B gene was initially described as causative of nephronophthisis (NPHP). Recently, the homozygous TTC21B p.P209L mutation has been identified in families with focal segmental glomerulosclerosis (FSGS) and tubulointerstitial lesions. Heterozygous TTC21B variants have been proposed as genetic modifiers in ciliopathies. We aimed to study the causative and modifying role of the TTC21B gene in glomerular and cystic kidney diseases.
  • Variant 2:
    TTC21B:p.Pro209Leu
    Gene:
    TTC21B
    Genomic location:
    dbSNP ID:
    Target disease:
    Polycystic Kidney Dysplasia(HP:0000113)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered severity 
    Evidence:
    P=0.0349 
    Effect:
    Heterozygous deleterious TTC21B variants may act as genetic modifiers of the severity of glomerular and cystic kidney diseases.
    Reference:
    PMID26940125
    Title:
    Contribution of the TTC21B gene to glomerular and cystic kidney diseases.
    Species studied:
    Human
    Abstract:
    The TTC21B gene was initially described as causative of nephronophthisis (NPHP). Recently, the homozygous TTC21B p.P209L mutation has been identified in families with focal segmental glomerulosclerosis (FSGS) and tubulointerstitial lesions. Heterozygous TTC21B variants have been proposed as genetic modifiers in ciliopathies. We aimed to study the causative and modifying role of the TTC21B gene in glomerular and cystic kidney diseases.
  • Variant 3:
    TTC21B:p.His426Asp
    Gene:
    TTC21B
    Genomic location:
    dbSNP ID:
    Target disease:
    Glomerulonephritis(DOID_2921)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered severity 
    Evidence:
    P=0.0349 
    Effect:
    Heterozygous deleterious TTC21B variants may act as genetic modifiers of the severity of glomerular and cystic kidney diseases.
    Reference:
    PMID26940125
    Title:
    Contribution of the TTC21B gene to glomerular and cystic kidney diseases.
    Species studied:
    Human
    Abstract:
    The TTC21B gene was initially described as causative of nephronophthisis (NPHP). Recently, the homozygous TTC21B p.P209L mutation has been identified in families with focal segmental glomerulosclerosis (FSGS) and tubulointerstitial lesions. Heterozygous TTC21B variants have been proposed as genetic modifiers in ciliopathies. We aimed to study the causative and modifying role of the TTC21B gene in glomerular and cystic kidney diseases.
  • Variant 4:
    TTC21B:p.His426Asp
    Gene:
    TTC21B
    Genomic location:
    dbSNP ID:
    Target disease:
    Polycystic Kidney Dysplasia(HP:0000113)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered severity 
    Evidence:
    P=0.0349 
    Effect:
    Heterozygous deleterious TTC21B variants may act as genetic modifiers of the severity of glomerular and cystic kidney diseases.
    Reference:
    PMID26940125
    Title:
    Contribution of the TTC21B gene to glomerular and cystic kidney diseases.
    Species studied:
    Human
    Abstract:
    The TTC21B gene was initially described as causative of nephronophthisis (NPHP). Recently, the homozygous TTC21B p.P209L mutation has been identified in families with focal segmental glomerulosclerosis (FSGS) and tubulointerstitial lesions. Heterozygous TTC21B variants have been proposed as genetic modifiers in ciliopathies. We aimed to study the causative and modifying role of the TTC21B gene in glomerular and cystic kidney diseases.