Proteinuric renal disease

Gene: VIPAS39

Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update.

Created: 27 Mar 2025, 1:36 p.m. | Last Modified: 27 Mar 2025, 1:36 p.m.

Panel Version: 4.25

VIPAS39 biallelic variants cause Arthrogryposis, renal dysfunction, and cholestasis 2 (OMIM:613404). At least 11 individuals have been reported in the literature. Proteinuria has been reported in at least 9 individuals (PMID:39736737;35151346;37202112;26019847;24071963;31479177) which supports inclusion of this gene on the panel.

Created: 27 Mar 2025, 1:33 p.m. | Last Modified: 27 Mar 2025, 1:38 p.m.

Panel Version: 4.27

Phenotypes
Arthrogryposis, renal dysfunction, and cholestasis 2 (OMIM:613404)

Publications

• 39736737
• 35151346
• 37202112
• 26019847
• 24071963

I don't know

This gene was part of an initial gene list collated by Elizabeth Watson, North Bristol NHS Trust, February 2019 on behalf of the GMS Renal Specialist Test Group. Gene Symbol submitted: VIPAS39 ; Suggested initial gene rating: amber; Evidence for inclusion: PMID: 20190753; Other comments: Renal dysfunction part of syndromic presentation.

Created: 4 Feb 2019, 10:41 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Arthrogryposis, renal dysfunction, and cholestasis 2 # 613404

Publications

• PMID: 20190753

Variants in this GENE are reported as part of current diagnostic practice