Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Gene: BICC1EnsemblGeneIds (GRCh38): ENSG00000122870
EnsemblGeneIds (GRCh37): ENSG00000122870
OMIM: 614295, Gene2Phenotype
BICC1 is in 2 panels
2 reviews
Abhijit Kulkarni (Healius Pathology)
Limited evidence for Cystic renal dysplasia. No clinical report with definitive diagnosis.Created: 16 May 2022, 12:39 a.m. | Last Modified: 16 May 2022, 12:39 a.m.
Panel Version: 0.14341
Phenotypes
renal dysplasia, cystic, susceptibility to
Chirag Patel (Genetic Health Queensland)
2 unrelated Caucasian boys with nonsyndromic cystic dysplasia, and identified 2 different heterozygous loss-of-function or hypomorphic mutations in the BICC1 gene. In each case, the mutation was inherited from an unaffected parent, suggesting that the disorder shows incomplete penetrance or that additional genetic or environmental factors are necessary for its development. They could not exclude that the parents may later develop additional manifestations.Created: 16 Jan 2020, 3:09 a.m. | Last Modified: 16 Jan 2020, 3:09 a.m.
Panel Version: 0.22
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
{Renal dysplasia, cystic, susceptibility to}; OMIM #601331
Publications
- PubMed: 21922595
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Victorian Clinical Genetics Services
- Phenotypes
-
- {Renal dysplasia, cystic, susceptibility to}
- OMIM #601331
- OMIM
- 614295
- Clinvar variants
- Variants in BICC1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: BICC1 were changed from {Renal dysplasia, cystic, susceptibility to}; OMIM #601331 to {Renal dysplasia, cystic, susceptibility to}; OMIM #601331
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: BICC1 were set to 21922595
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: bicc1 has been classified as Red List (Low Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: BICC1 were changed from to {Renal dysplasia, cystic, susceptibility to}; OMIM #601331
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: BICC1 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: BICC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: bicc1 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)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