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  2. Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
  3. TBC1D31
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Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic

Gene: TBC1D31

Red List (low evidence)
TBC1D31 (TBC1 domain family member 31)
EnsemblGeneIds (GRCh38): ENSG00000156787
EnsemblGeneIds (GRCh37): ENSG00000156787
TBC1D31 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single paper with homozygous mutations in 3 sibs with CAKUT from consanguineous family
Sources: Literature
Created: 3 Aug 2023, 3:33 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
congenital anomaly of kidney and urinary tract MONDO:0019719, TBC1D31-related

Publications

Created: 3 Aug 2023, 3:33 a.m.

Panel version: 0.115

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • congenital anomaly of kidney and urinary tract MONDO:0019719, TBC1D31-related
Clinvar variants
Variants in TBC1D31
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Aug 2023, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tbc1d31 has been classified as Red List (Low Evidence).

3 Aug 2023, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TBC1D31 was added gene: TBC1D31 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic. Sources: Literature Mode of inheritance for gene: TBC1D31 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TBC1D31 were set to 37468454 Phenotypes for gene: TBC1D31 were set to congenital anomaly of kidney and urinary tract MONDO:0019719, TBC1D31-related Review for gene: TBC1D31 was set to RED