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  2. Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
  3. CBWD1
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Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic

Gene: CBWD1

Red List (low evidence)
CBWD1 (COBW domain containing 1)
EnsemblGeneIds (GRCh38): ENSG00000172785
EnsemblGeneIds (GRCh37): ENSG00000172785
OMIM: 611078, Gene2Phenotype
CBWD1 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

A pair of siblings with homozygous deletion in this gene reported; functional data including animal model.
Sources: Literature
Created: 6 Jan 2020, 3:51 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
CAKUT

Publications

Created: 6 Jan 2020, 3:51 a.m.

Panel version: 0.21

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • CAKUT
OMIM
611078
Clinvar variants
Variants in CBWD1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Jan 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cbwd1 has been classified as Red List (Low Evidence).

6 Jan 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CBWD1 was added gene: CBWD1 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS. Sources: Literature Mode of inheritance for gene: CBWD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CBWD1 were set to 31862704 Phenotypes for gene: CBWD1 were set to CAKUT Review for gene: CBWD1 was set to RED