Renal tubulopathies
Gene: SARS2The 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
There is enough evidence for this gene to be rated GREEN at the next major review.Created: 5 Aug 2020, 3:25 p.m. | Last Modified: 5 Aug 2020, 3:25 p.m.
Panel Version: 2.15
Comment on list classification: Associated with Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis 613845 in OMIM, but not associated with phenotype in Gen2Phen. At least 3 variants reported in at least 3 unrelated cases, together with supportive functional studies and segregation with the phenotype.Created: 5 Aug 2020, 3:25 p.m. | Last Modified: 5 Aug 2020, 3:25 p.m.
Panel Version: 2.15
Sources: LiteratureCreated: 5 Aug 2020, 3:16 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis 613845; Progressive Spastic Paresis
Publications
Phenotypes for gene: SARS2 were changed from Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis 613845; Progressive Spastic Paresis to Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, OMIM:613845; Progressive Spastic Paresis
Tag for-review was removed from gene: SARS2.
Source Expert Review Green was added to SARS2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: sars2 has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: SARS2.
gene: SARS2 was added gene: SARS2 was added to Renal tubulopathies. Sources: Literature Mode of inheritance for gene: SARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SARS2 were set to 21255763; 24034276; 27279129 Phenotypes for gene: SARS2 were set to Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis 613845; Progressive Spastic Paresis Review for gene: SARS2 was set to AMBER