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| Renal Macrocystic Disease v2.0 | BICC1 | Gene migrated from ENSG00000122870 to ENSG00000122870 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Macrocystic Disease v0.106 | 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 |
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| Renal Macrocystic Disease v0.106 | Chirag Patel Added reviews for gene BICC1 from panel Mendeliome | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Macrocystic Disease v0.103 | BICC1 | Zornitza Stark Marked gene: BICC1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Macrocystic Disease v0.103 | BICC1 | Zornitza Stark Gene: bicc1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Macrocystic Disease v0.103 | BICC1 | Zornitza Stark Classified gene: BICC1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Macrocystic Disease v0.103 | BICC1 | Zornitza Stark Gene: bicc1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Macrocystic Disease v0.102 | BICC1 | Chirag Patel Classified gene: BICC1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Macrocystic Disease v0.102 | BICC1 | Chirag Patel Gene: bicc1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Macrocystic Disease v0.101 | Chirag Patel Copied gene BICC1 from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Macrocystic Disease v0.101 | BICC1 |
Chirag Patel gene: BICC1 was added gene: BICC1 was added to Renal Macrocystic Disease. Sources: Expert Review Amber,Victorian Clinical Genetics Services Mode of inheritance for gene: BICC1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: BICC1 were set to 21922595, 35005812, 39253489, 39655693, 41278337 Phenotypes for gene: BICC1 were set to Multicystic dysplastic kidney, MONDO:0015988; polycystic kidney disease, MONDO:0020642 |
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