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| Renal Macrocystic Disease v0.77 | PKHD1 | Bryony Thompson Added comment: Comment on mode of inheritance: Biallelic is Green and Monoallelic is Amber | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Macrocystic Disease v0.77 | PKHD1 | Bryony Thompson Mode of inheritance for gene: PKHD1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Macrocystic Disease v0.76 | PKHD1 | Bryony Thompson edited their review of gene: PKHD1: Changed publications: 39190485, 21945273 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Macrocystic Disease v0.76 | PKHD1 |
Bryony Thompson changed review comment from: Emerging evidence of a monoallelic association with polycystic kidney with/without liver cysts. Enrichment of monoallelic PKHD1 LoF variants (P = 2.98e-08, OR 4.07, 95%CI 2.24-6.88) in 100K GP cystic kidney disease cohort. 50 cases, of which 22 were solved (3 ARPKD & 19 PKD1/2), 2 were partially solved (likely ARPKD), 24 were unsolved (4 with predicted deleterious missense in PKD1/2), and 2 were unascertainable. 18/1209 - with only monoallelic PKHD1 as plausible cause. Enrichment in unexplained (n=266) CyKD cases (P = 5.85e-6, OR 2.92, 95% CI 1.69-4.76). 100K GP WGS case-control analysis: cystic kidney disease cohort n=1209 vs ancestry-matched controls n=29,096. Gene-based collapsing rare variant association with SAIGE-GENE (P<2.6e-6).; to: Emerging evidence of a monoallelic association with polycystic kidney with/without liver cysts. PMID: 39190485 - Enrichment of monoallelic PKHD1 LoF variants (P = 2.98e-08, OR 4.07, 95%CI 2.24-6.88) in 100K GP cystic kidney disease cohort. 50 cases, of which 22 were solved (3 ARPKD & 19 PKD1/2), 2 were partially solved (likely ARPKD), 24 were unsolved (4 with predicted deleterious missense in PKD1/2), and 2 were unascertainable. 18/1209 - with only monoallelic PKHD1 as plausible cause. Enrichment in unexplained (n=266) CyKD cases (P = 5.85e-6, OR 2.92, 95% CI 1.69-4.76). 100K GP WGS case-control analysis: cystic kidney disease cohort n=1209 vs ancestry-matched controls n=29,096. Gene-based collapsing rare variant association with SAIGE-GENE (P<2.6e-6). PMID: 21945273 - study suggests carrier status for ARPKD is a predisposition to polycystic liver disease and renal involvement. Ultrasound evaluations on 110 parents from 64 independent ARPKD families (85 molecularly confirmed) identified increased medullary echogenicity in 6 (5.5%) and multiple small liver cysts in 10 parents (9%). Ages of the group ranged from 27 to 66 years (39.5 ± 6.8). |
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| Renal Macrocystic Disease v0.76 | PKHD1 | Bryony Thompson reviewed gene: PKHD1: Rating: AMBER; Mode of pathogenicity: None; Publications: 39190485; Phenotypes: Polycystic kidney disease MONDO:0020642; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Macrocystic Disease v0.34 | PKHD1 | Zornitza Stark Marked gene: PKHD1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Macrocystic Disease v0.34 | PKHD1 | Zornitza Stark Gene: pkhd1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Macrocystic Disease v0.34 | PKHD1 | Zornitza Stark Phenotypes for gene: PKHD1 were changed from to Polycystic kidney disease 4, with or without hepatic disease, MIM# 263200 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Macrocystic Disease v0.33 | PKHD1 | Zornitza Stark Mode of inheritance for gene: PKHD1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Macrocystic Disease v0.33 | PKHD1 | Zornitza Stark Mode of inheritance for gene: PKHD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Macrocystic Disease v0.32 | PKHD1 | Zornitza Stark reviewed gene: PKHD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Polycystic kidney disease 4, with or without hepatic disease, MIM# 263200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Macrocystic Disease v0.0 | PKHD1 |
Zornitza Stark gene: PKHD1 was added gene: PKHD1 was added to Renal cystic disease_KidGen. Sources: KidGen_Cystic v38.1.0,Expert Review Green Mode of inheritance for gene: PKHD1 was set to Unknown |
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