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| Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.150 | 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.149 | 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.149 | 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.149 | 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.148 | BICC1 | Chirag Patel Publications for gene: BICC1 were set to 21922595 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.148 | BICC1 | Chirag Patel Mode of inheritance for gene: BICC1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.148 | BICC1 | Chirag Patel Mode of inheritance for gene: BICC1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.147 | BICC1 | Chirag Patel Classified gene: BICC1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.147 | BICC1 | Chirag Patel Gene: bicc1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.146 | BICC1 |
Chirag Patel edited their review of gene: BICC1: Added comment: PMID 35005812 reports 1 individual with bilateral renal agenesis with myelomeningocele and a de novo heterozygous splice variant in BICC1 gene (no splice/functional studies, absent in gnomAD). PMID 41278337 reports 1 individual with proteinuric kidney disease, FSGS, kidney failure at 31yrs, and a heterozygous nonsense variant in BICC1 gene (no functional studies, 1 Het in gnomAD). The variant was inherited from his affected mother who had kidney failure at 70yrs. He also had a missense variant inherited from his unaffected father (>6000 Hets in gnomAD). PMID 39253489 reports 1 fetus with bilateral enlarged cystic dysplastic kidneys, bilateral post‑axial polydactyly, and a homozygous nonsense variant in BICC1 gene (no functional studies, 2 Hets in gnomAD). Both parents were heterozygous for the variant. PMID 39655693 reports 2 siblings with very early‑onset autosomal dominant polycystic kidney disease, and a homozygous missense variant in BICC1 gene (some functional studies showing loss of function, absent in gnomAD). Both parents were heterozygous for the variant. PMID 39655693 reports 2 individuals with very early‑onset autosomal dominant polycystic kidney disease. One had a heterozygous missense variant in BICC1 gene inherited from the unaffected father (>3000 Hets in gnomAD), and a de novo PKD2 gene variant. The other had a heterozygous splice variant in BICC1 gene inherited from the unaffected father (2 Hets in gnomAD), and a de novo PKD1 gene variant. The BICC1 variants are postulated to aggravate PKD severity. They also performed functional studies that demonstrate Bicc1 regulates the expression of Pkd1 and Pkd2. The PKD was aggravated in loss-of-function studies in Xenopus and mouse models resulting in more severe disease when Bicc1 was depleted in conjunction with Pkd1 or Pkd2.; Changed rating: AMBER; Changed publications: 35005812, 39253489, 39655693, 41278337; Changed phenotypes: Multicystic dysplastic kidney, MONDO:0015988, polycystic kidney disease, MONDO:0020642; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
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| Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.64 | BICC1 | Zornitza Stark Phenotypes for gene: BICC1 were changed from {Renal dysplasia, cystic, susceptibility to}; OMIM #601331 to {Renal dysplasia, cystic, susceptibility to}; OMIM #601331 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.64 | BICC1 | Zornitza Stark Publications for gene: BICC1 were set to 21922595 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.63 | BICC1 | Zornitza Stark Marked gene: BICC1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.63 | BICC1 | Zornitza Stark Gene: bicc1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.63 | BICC1 | Zornitza Stark Phenotypes for gene: BICC1 were changed from to {Renal dysplasia, cystic, susceptibility to}; OMIM #601331 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.63 | BICC1 | Zornitza Stark Publications for gene: BICC1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.62 | BICC1 | Zornitza Stark Mode of inheritance for gene: BICC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.23 | BICC1 | Chirag Patel Classified gene: BICC1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.23 | BICC1 | Chirag Patel Gene: bicc1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.22 | BICC1 | Chirag Patel reviewed gene: BICC1: Rating: RED; Mode of pathogenicity: None; Publications: PubMed: 21922595; Phenotypes: {Renal dysplasia, cystic, susceptibility to}, OMIM #601331; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.0 | BICC1 |
Zornitza Stark gene: BICC1 was added gene: BICC1 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: BICC1 was set to Unknown |
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