| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Nephrocalcinosis or nephrolithiasis v2.28 | VIPAS39 | Eleanor Williams Phenotypes for gene: VIPAS39 were changed from Arthrogryposis, renal dysfunction, and cholestasis 2, 613404 to Arthrogryposis, renal dysfunction, and cholestasis 2, OMIM:613404 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Nephrocalcinosis or nephrolithiasis v2.27 | VIPAS39 | Eleanor Williams Tag for-review was removed from gene: VIPAS39. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Nephrocalcinosis or nephrolithiasis v2.27 | VIPAS39 | Eleanor Williams commented on gene: VIPAS39 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Nephrocalcinosis or nephrolithiasis v2.26 | VIPAS39 |
Eleanor Williams Source Expert Review Green was added to VIPAS39. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Nephrocalcinosis or nephrolithiasis v2.16 | VIPAS39 | Arina Puzriakova Classified gene: VIPAS39 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Nephrocalcinosis or nephrolithiasis v2.16 | VIPAS39 | Arina Puzriakova Added comment: 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). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Nephrocalcinosis or nephrolithiasis v2.16 | VIPAS39 | Arina Puzriakova Gene: vipas39 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Nephrocalcinosis or nephrolithiasis v2.15 | VIPAS39 | Arina Puzriakova Tag for-review tag was added to gene: VIPAS39. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Nephrocalcinosis or nephrolithiasis v2.12 | VPS33B |
Rebecca Foulger gene: VPS33B was added gene: VPS33B was added to Nephrocalcinosis or nephrolithiasis. Sources: Literature Mode of inheritance for gene: VPS33B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VPS33B were set to 15052268; 22753090 Phenotypes for gene: VPS33B were set to Arthrogryposis, renal dysfunction, and cholestasis 1, 208085 Added comment: Added to panel as Green gene as advised by Helen Brittain, Genomics England Clinical Team. This rating should be reviewed by GLHs at the date of next GMS panel update. ARC phenotype (MIM:208085) is appropriate for the panel, and sufficient cases to support causation (see also the other ARC gene, VIPAS39). Sources: Literature |
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| Nephrocalcinosis or nephrolithiasis v2.11 | VIPAS39 | Rebecca Foulger Classified gene: VIPAS39 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Nephrocalcinosis or nephrolithiasis v2.11 | VIPAS39 | Rebecca Foulger Gene: vipas39 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Nephrocalcinosis or nephrolithiasis v2.10 | VIPAS39 | Rebecca Foulger commented on gene: VIPAS39: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Nephrocalcinosis or nephrolithiasis v2.10 | VIPAS39 |
Rebecca Foulger 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 Added comment: 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: Literature |
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