Renal tubulopathies
Gene: VIPAS39Comment on list classification: Changed rating to Amber to reflect NHS signed-off rating, will be examined at next panel review.Created: 16 Oct 2020, 8:26 a.m. | Last Modified: 16 Oct 2020, 8:26 a.m.
Panel Version: 2.19
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 8 Mar 2022, 11:45 a.m. | Last Modified: 8 Mar 2022, 11:45 a.m.
Panel Version: 2.32
Comment on list classification: Sufficient cases (>3) reported in PMID:20190753 with patients with different ethnicities, several variants are reported and functional studies support the phenotype.Created: 30 Mar 2020, 2:01 p.m. | Last Modified: 30 Mar 2020, 2:01 p.m.
Panel Version: 2.11
Reviewed by Zornitza Stark on the Unexplained kidney failure in young people panel (panel 156) where she notes that it is a syndromic disorder with a prominent renal phenotype renal tubular acidosis and Fanconi syndrome. Australian Genomics have this gene green on their renal tubulopathies panel.
Sources: Expert ReviewCreated: 30 Mar 2020, 1:57 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Arthrogryposis, renal dysfunction, and cholestasis 2 #613404
Publications
Phenotypes for gene: VIPAS39 were changed from Arthrogryposis, renal dysfunction, and cholestasis 2 #613404 to Arthrogryposis, renal dysfunction, and cholestasis 2, OMIM:613404
Tag for-review was removed from gene: VIPAS39.
Source Expert Review Green was added to VIPAS39. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag for-review tag was added to gene: VIPAS39.
Gene: vipas39 has been classified as Amber List (Moderate Evidence).
Gene: vipas39 has been classified as Green List (High Evidence).
gene: VIPAS39 was added gene: VIPAS39 was added to Renal tubulopathies. Sources: Expert Review Mode of inheritance for gene: VIPAS39 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VIPAS39 were set to 20190753 Phenotypes for gene: VIPAS39 were set to Arthrogryposis, renal dysfunction, and cholestasis 2 #613404 Review for gene: VIPAS39 was set to GREEN