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Mendeliome v1.4567 Chirag Patel Added reviews for gene BICC1 from panel Mendeliome
Mendeliome v1.4566 BICC1 Chirag Patel edited their review of gene: BICC1: Added comment: PMID 41677782 provides 4 individuals from 3 families with very early‑onset polycystic kidney disease (VEO-PKD).
-2 siblings from consanguineous family with homozygous missense BICC1 variant (p.Ser240Pro)(absent gnomAD). One of the siblings also had a PKD2 variant (c.1445T>G, p.Phe482Cys).
-1 individual with BICC1 missense variant (c.2462G>A, p.Gly821Glu)(3025 HTZ gnomAD) inherited from his father (2 small renal cysts in 1 kidney), and a de novo PKD2 variant (c.1894T>C, p.Cys632Arg).
-1 individual with BICC1 splice variant (c.1179+1G>T)(absent gnomAD) inherited from his father, and a de novo PKD1 variant (c.11942C>T, p.Ala3981Val).
Functional assays of the p.Ser240Pro and p.Gly821Glu variants demonstrated hypomorphic loss‑of‑function (CRISPR knock‑in HEK293T, Xenopus rescue, protein stability). Hypothesis that BICC1 cooperates functionally with PKD1 and PKD2, and that BICC1 variants may aggravate PKD severity.; Changed publications: 41677782; Changed phenotypes: Polycystic kidney disease, MONDO:0020642; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.3855 BICC1 Chirag Patel Publications for gene: BICC1 were set to 21922595, 35005812, 39253489, 39655693, 41278337
Mendeliome v1.3855 BICC1 Chirag Patel Publications for gene: BICC1 were set to 21922595, 35005812, 39253489, 39655693, 41278337
Mendeliome v1.3855 BICC1 Chirag Patel Publications for gene: BICC1 were set to 21922595, 35005812, 39253489, 39655693, 41278337
Mendeliome v1.3855 BICC1 Chirag Patel Publications for gene: BICC1 were set to 21922595, 35005812, 39253489, 39655693, 41278337
Mendeliome v1.3855 BICC1 Chirag Patel Publications for gene: BICC1 were set to 21922595, 35005812, 39253489, 39655693, 41278337
Mendeliome v1.3855 BICC1 Chirag Patel Publications for gene: BICC1 were set to 21922595, 35005812, 39253489, 39655693, 41278337
Mendeliome v1.3854 BICC1 Chirag Patel Publications for gene: BICC1 were set to 21922595
Mendeliome v1.3853 BICC1 Chirag Patel Phenotypes for gene: BICC1 were changed from Multicystic dysplastic kidney, MONDO:0015988; polycystic kidney disease, MONDO:0020642 to Multicystic dysplastic kidney, MONDO:0015988; polycystic kidney disease, MONDO:0020642
Mendeliome v1.3853 BICC1 Chirag Patel Phenotypes for gene: BICC1 were changed from Multicystic dysplastic kidney, MONDO:0015988; polycystic kidney disease, MONDO:0020642 to Multicystic dysplastic kidney, MONDO:0015988; polycystic kidney disease, MONDO:0020642
Mendeliome v1.3852 BICC1 Chirag Patel Phenotypes for gene: BICC1 were changed from Multicystic dysplastic kidney, MONDO:0015988; polycystic kidney disease, MONDO:0020642 to Multicystic dysplastic kidney, MONDO:0015988; polycystic kidney disease, MONDO:0020642
Mendeliome v1.3852 BICC1 Chirag Patel Phenotypes for gene: BICC1 were changed from Multicystic dysplastic kidney, MONDO:0015988; polycystic kidney disease, MONDO:0020642 to Multicystic dysplastic kidney, MONDO:0015988; polycystic kidney disease, MONDO:0020642
Mendeliome v1.3852 BICC1 Chirag Patel Phenotypes for gene: BICC1 were changed from Multicystic dysplastic kidney, MONDO:0015988; polycystic kidney disease, MONDO:0020642 to Multicystic dysplastic kidney, MONDO:0015988; polycystic kidney disease, MONDO:0020642
Mendeliome v1.3852 BICC1 Chirag Patel Phenotypes for gene: BICC1 were changed from Multicystic dysplastic kidney, MONDO:0015988; polycystic kidney disease, MONDO:0020642 to Multicystic dysplastic kidney, MONDO:0015988; polycystic kidney disease, MONDO:0020642
Mendeliome v1.3852 BICC1 Chirag Patel Phenotypes for gene: BICC1 were changed from {Renal dysplasia, cystic, susceptibility to}; OMIM #601331 to Multicystic dysplastic kidney, MONDO:0015988; polycystic kidney disease, MONDO:0020642
Mendeliome v1.3851 BICC1 Chirag Patel Mode of inheritance for gene: BICC1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.3850 BICC1 Chirag Patel Classified gene: BICC1 as Amber List (moderate evidence)
Mendeliome v1.3850 BICC1 Chirag Patel Gene: bicc1 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.3849 Chirag Patel Added reviews for gene BICC1 from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Mendeliome v0.14341 BICC1 Abhijit Kulkarni reviewed gene: BICC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: renal dysplasia, cystic, susceptibility to; Mode of inheritance: None
Mendeliome v0.811 BICC1 Zornitza Stark Marked gene: BICC1 as ready
Mendeliome v0.811 BICC1 Zornitza Stark Gene: bicc1 has been classified as Red List (Low Evidence).
Mendeliome v0.811 BICC1 Zornitza Stark Phenotypes for gene: BICC1 were changed from to {Renal dysplasia, cystic, susceptibility to}; OMIM #601331
Mendeliome v0.810 BICC1 Zornitza Stark Publications for gene: BICC1 were set to
Mendeliome v0.809 BICC1 Zornitza Stark Classified gene: BICC1 as Red List (low evidence)
Mendeliome v0.809 BICC1 Zornitza Stark Gene: bicc1 has been classified as Red List (Low Evidence).
Mendeliome v0.0 BICC1 Zornitza Stark gene: BICC1 was added
gene: BICC1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: BICC1 was set to Unknown