Unexplained kidney failure in young people
Gene: SARS2
There is enough evidence for this gene to be rated GREEN at the next major review.Created: 5 Aug 2020, 3:26 p.m. | Last Modified: 5 Aug 2020, 3:26 p.m.
Panel Version: 1.91
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, 3:24 p.m. | Last Modified: 5 Aug 2020, 3:24 p.m.
Panel Version: 1.91
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
Gene: sars2 has been classified as Green List (High Evidence).
Tag for-review was removed from gene: SARS2.
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 Unexplained kidney failure in young people. 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