Disorder "Polycystic Kidney Dysplasia"
Found 2 records
Disorder information
Disorder name:
Polycystic Kidney Dysplasia
Disoder ID:
Synonyms:
Polycystic kidneys, Enlarged polycystic kidneys
Definition:
The presence of multiple cysts in both kidneys.
Modifier statisitcs
Record:
2
Gene:
1
Variant:
2
Reference:
1
Effect type:
Expressivity(2)
Modifier effect:
Altered severity(2)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| TTC21B | TTC21B:p.His426Asp | Expressivity | Altered severity | P=0.0349 | Heterozygous deleterious TTC21B variants may act as genetic modifiers of the severity of glomerular and cystic kidney diseases.more | more |
| TTC21B:p.Pro209Leu | Expressivity | Altered severity | P=0.0349 | Heterozygous deleterious TTC21B variants may act as genetic modifiers of the severity of glomerular and cystic kidney diseases.more | more |
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