CAKUT

Gene: VIPAS39

Red List (low evidence)

VIPAS39 (VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog)
EnsemblGeneIds (GRCh38): ENSG00000151445
EnsemblGeneIds (GRCh37): ENSG00000151445
OMIM: 613401, Gene2Phenotype
VIPAS39 is in 18 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Later-onset, not CAKUT.
Created: 25 Apr 2016, 1:06 p.m.
Comment on list classification: Is a confirmed DD gene for Arthrogryposis, renal dysfunction, and cholestasis 2.
Created: 22 Apr 2016, 10:56 a.m.

Helen Stuart (University of Manchester)

Green List (high evidence)

This gene is associated with tubulopathy rather than CAKUT
Created: 17 Oct 2015, 7:49 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Arthrogryposis, renal dysfunction, and cholestasis

Publications

History Filter Activity

25 Apr 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

22 Apr 2016, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for VIPAS39 was changed to BIALLELIC, autosomal or pseudoautosomal

22 Apr 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

14 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

VIPAS39 was added to Congenital Anomaly of the Kidneys and Urinary Tract (CAKUT)panel. Sources: Radboud University Medical Center, Nijmegen