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  2. Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
  3. BCORL1
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Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic

Gene: BCORL1

Amber List (moderate evidence)
BCORL1 (BCL6 corepressor like 1)
EnsemblGeneIds (GRCh38): ENSG00000085185
EnsemblGeneIds (GRCh37): ENSG00000085185
OMIM: 300688, Gene2Phenotype
BCORL1 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Emerging evidence of disease association.
Sources: Expert Review
Created: 16 May 2024, 4:43 a.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Congenital anomaly of the kidney and urinary tract, MONDO:0019719, BCORL1-related

Created: 16 May 2024, 4:43 a.m.

Panel version: 0.116

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • Congenital anomaly of the kidney and urinary tract, MONDO:0019719, BCORL1-related
OMIM
300688
Clinvar variants
Variants in BCORL1
Penetrance
None
Panels with this gene

History Filter Activity

16 May 2024, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: bcorl1 has been classified as Amber List (Moderate Evidence).

16 May 2024, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: bcorl1 has been classified as Amber List (Moderate Evidence).

16 May 2024, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: BCORL1 was added gene: BCORL1 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic. Sources: Expert Review Mode of inheritance for gene: BCORL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: BCORL1 were set to Congenital anomaly of the kidney and urinary tract, MONDO:0019719, BCORL1-related Review for gene: BCORL1 was set to AMBER