Disorder "Cone-Rod Dystrophy"
Found 7 records
Disorder information
Disorder name:
Cone-Rod Dystrophy
Disoder ID:
Definition:
An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones.
Modifier statisitcs
Record:
7
Gene:
4
Variant:
7
Reference:
3
Effect type:
Expressivity(6)
,Penetrance(1)
Modifier effect:
Altered severity(5)
,Altered RPE change(1)
,Altered incidence(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| ROM1 | ROM1:c.686G>A(p.Arg229His) | Expressivity | Altered severity | Pedigree analysis | PRPH2-associated phenotype might be modulated by additional mutations in other genes (in this family ABCA4 and/or ROM1) accounting for intrafamilial variability and resulting in a cumulative effect worsening the phenotype. Families showing a variable macular dystrophy phenotype caused by mutations in PRPH2 are tested for additional mutations in ABCA4 and ROM1 as they might alter the progression of the PRPH2 phenotype.more | more |
| ROM1:p.Arg172Trp | Expressivity | Altered severity | Pedigree analysis | PRPH2-associated phenotype might be modulated by additional mutations in other genes (in this family ABCA4 and/or ROM1) accounting for intrafamilial variability and resulting in a cumulative effect worsening the phenotype. Families showing a variable macular dystrophy phenotype caused by mutations in PRPH2 are tested for additional mutations in ABCA4 and ROM1 as they might alter the progression of the PRPH2 phenotype.more | more | |
| GUCY2D | GUCY2D:c.2512C>T(p.Arg838Cys) | Expressivity | Altered RPE change | Pedigree analysis | Modify the phenotypemore | more |
| CNOT3 | CNOT3:c.*1582A>G | Penetrance | Altered incidence | Pedigree analysis | Reduced incidencemore | more |
| ABCA4 | ABCA4:c.514G>A(p.Gly172Ser) | Expressivity | Altered severity | Pedigree analysis | PRPH2-associated phenotype might be modulated by additional mutations in other genes (in this family ABCA4 and/or ROM1) accounting for intrafamilial variability and resulting in a cumulative effect worsening the phenotype. Families showing a variable macular dystrophy phenotype caused by mutations in PRPH2 are tested for additional mutations in ABCA4 and ROM1 as they might alter the progression of the PRPH2 phenotype.more | more |
| ABCA4:c.6148G>C(p.Val2050Leu) | Expressivity | Altered severity | Pedigree analysis | PRPH2-associated phenotype might be modulated by additional mutations in other genes (in this family ABCA4 and/or ROM1) accounting for intrafamilial variability and resulting in a cumulative effect worsening the phenotype. Families showing a variable macular dystrophy phenotype caused by mutations in PRPH2 are tested for additional mutations in ABCA4 and ROM1 as they might alter the progression of the PRPH2 phenotype.more | more | |
| ABCA4:p.Arg229His | Expressivity | Altered severity | Pedigree analysis | PRPH2-associated phenotype might be modulated by additional mutations in other genes (in this family ABCA4 and/or ROM1) accounting for intrafamilial variability and resulting in a cumulative effect worsening the phenotype. Families showing a variable macular dystrophy phenotype caused by mutations in PRPH2 are tested for additional mutations in ABCA4 and ROM1 as they might alter the progression of the PRPH2 phenotype.more | more |
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