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| Renal Macrocystic Disease v0.32 | LRP5 |
Zornitza Stark gene: LRP5 was added gene: LRP5 was added to Renal Macrocystic Disease. Sources: Expert list Mode of inheritance for gene: LRP5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: LRP5 were set to 25920554; 24706814 Phenotypes for gene: LRP5 were set to Polycystic liver disease 4 with or without kidney cysts, MIM# 617875 Review for gene: LRP5 was set to RED Added comment: 5 families reported. However, some non-penetrance reported in family members in original family. In two of the families reported subsequently, PKD1 LP variants were found and LRP5 variant was postulated to be a modifier. Note that one of the variants p.Arg1036Gln is present in 692 individuals in gnomad, p.Trp560Cys is present in 9, and p.Arg1135Cys is present in 70. Overall limited evidence for association with cystic renal phenotype. Note the gene has a well-established association with eye/bone phenotypes. Sources: Expert list |
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| Renal Macrocystic Disease v0.24 | PKD1 | Zornitza Stark Marked gene: PKD1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Macrocystic Disease v0.24 | PKD1 | Zornitza Stark Gene: pkd1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Macrocystic Disease v0.24 | PKD1 | Zornitza Stark Phenotypes for gene: PKD1 were changed from to Polycystic kidney disease 1, MIM# 173900 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Macrocystic Disease v0.23 | PKD1 | Zornitza Stark Mode of inheritance for gene: PKD1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Macrocystic Disease v0.22 | PKD1 | Chern Lim reviewed gene: PKD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Polycystic kidney disease 1, MIM# 173900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Macrocystic Disease v0.0 | PKD1 |
Zornitza Stark gene: PKD1 was added gene: PKD1 was added to Renal cystic disease_KidGen. Sources: KidGen_Cystic v38.1.0,Expert Review Green Mode of inheritance for gene: PKD1 was set to Unknown |
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