Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic

Gene: BICC1

Red List (low evidence)

BICC1 (BicC family RNA binding protein 1)
EnsemblGeneIds (GRCh38): ENSG00000122870
EnsemblGeneIds (GRCh37): ENSG00000122870
OMIM: 614295, Gene2Phenotype
BICC1 is in 2 panels

2 reviews

Abhijit Kulkarni (Healius Pathology)

Red List (low evidence)

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)

Red List (low evidence)

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

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

16 Jan 2020, Gel status: 1

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

16 Jan 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: BICC1 were set to 21922595

16 Jan 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: bicc1 has been classified as Red List (Low Evidence).

16 Jan 2020, Gel status: 1

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

16 Jan 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: BICC1 were set to

16 Jan 2020, Gel status: 1

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

16 Jan 2020, Gel status: 1

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: bicc1 has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

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