Nephrocalcinosis or nephrolithiasis
Gene: VIPAS39The rating of this gene has been updated following NHS Genomic Medicine Service approval. The reviewers note that this is a key gene for ARC. >10 cases on HGMD for ARC (OMIM 208085) phenotype which has association with Nephrocalcinosis.Created: 7 Mar 2022, 11:09 p.m. | Last Modified: 7 Mar 2022, 11:09 p.m.
Panel Version: 2.27
Comment 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, 3:33 p.m. | Last Modified: 20 Oct 2020, 3:33 p.m.
Panel Version: 2.16
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.Created: 21 Apr 2020, 3:50 p.m. | Last Modified: 21 Apr 2020, 3:50 p.m.
Panel Version: 2.10
Added to panel as Green following advice from Helen Brittain, Genomics England Clinical Team. Nephrocalcinosis is a feature of the phenotype. Other syndromes are on this panel (Lesch-Nyhan and Lowe syndrome) as Green, and therefore rated Green to match. This rating should be reviewed by GLHs at the date of next GMS panel update.
Sources: LiteratureCreated: 21 Apr 2020, 3:49 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)
Gene: vipas39 has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: VIPAS39.
Gene: vipas39 has been classified as Green List (High Evidence).
gene: VIPAS39 was added gene: VIPAS39 was added to Nephrocalcinosis or nephrolithiasis. Sources: Literature 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