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  3. VIPAS39
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Renal Tubulopathies and related disorders

Gene: VIPAS39

Green List (high evidence)
VIPAS39 (VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog)
EnsemblGeneIds (GRCh38): ENSG00000151445
EnsemblGeneIds (GRCh37): ENSG00000151445
OMIM: 613401, Gene2Phenotype
VIPAS39 is in 13 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least 4 unrelated families reported.
Created: 19 Mar 2022, 1:58 a.m. | Last Modified: 19 Mar 2022, 1:58 a.m.
Panel Version: 0.45

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Arthrogryposis, renal dysfunction, and cholestasis 2, MIM#613404

Publications

Created: 19 Mar 2022, 1:58 a.m.
Last Modified: 19 Mar 2022, 1:58 a.m.
Panel version: Imported from Renal Tubulopathies_KidGen panel version 0.45

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_Tubulopathies v38.1.0
  • Expert Review Green
  • KidGen_Tubulopathies v38.1.0
Phenotypes
  • Arthrogryposis, renal dysfunction, and cholestasis 2, MIM#613404
OMIM
613401
Clinvar variants
Variants in VIPAS39
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Dec 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: VIPAS39 was added gene: VIPAS39 was added to Renal Tubulopathies and related disorders. Sources: KidGen_Tubulopathies v38.1.0,Expert Review Green Mode of inheritance for gene: VIPAS39 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VIPAS39 were set to 20190753; 35151346 Phenotypes for gene: VIPAS39 were set to Arthrogryposis, renal dysfunction, and cholestasis 2, MIM#613404