Unexplained young onset end-stage renal disease
Gene: VIPAS39Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag).Created: 20 Oct 2020, 3:34 p.m. | Last Modified: 20 Oct 2020, 3:34 p.m.
Panel Version: 1.11
Comment on list classification: Updated rating from Red to Green following advice from Helen Brittain, Genomics England Clinical Team. PMID:20190753 (Cullinane et al., 2010) identify biallelic (homozygous or compound het) variants in 7 probands from consanguineous families with ARC (MIM:613404) from various ethnic backgrounds (Turkish, Croation, Israeli Arab, Italian). Variants include Q179X, T250ArgfsX279, R220X, Q291X, M1R. The paper does not further discuss the kidney phenotype but the other ARC syndrome gene, VPS33B, is already green on this panel. This rating should be reviewed by GLHs at the date of next GMS panel update.Created: 21 Apr 2020, 3:43 p.m. | Last Modified: 21 Apr 2020, 3:43 p.m.
Panel Version: 1.9
The rating of this gene has been updated following NHS Genomic Medicine Service approval. The reviewers note a clear kidney involvement.Created: 8 Mar 2022, 1:59 p.m. | Last Modified: 8 Mar 2022, 1:59 p.m.
Panel Version: 1.29
Gene imported from the 'Renal and urinary tract disorders' panel v1.8 with a rating of RedCreated: 9 Apr 2019, 11:17 a.m.
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.
This gene is associated with tubulopathy rather than CAKUTCreated: 17 Oct 2015, 7:49 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Arthrogryposis, renal dysfunction, and cholestasis
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)
Gene: vipas39 has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: VIPAS39.
Phenotypes for gene: VIPAS39 were changed from Arthrogryposis, renal dysfunction, and cholestasis 2, 613404 to Arthrogryposis, renal dysfunction, and cholestasis 2, 613404
Gene: vipas39 has been classified as Green List (High Evidence).
Publications for gene: VIPAS39 were set to
gene: VIPAS39 was added gene: VIPAS39 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red Mode of inheritance for gene: VIPAS39 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VIPAS39 were set to Arthrogryposis, renal dysfunction, and cholestasis 2, 613404