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Intellectual disability

Gene: SARS2

Amber List (moderate evidence)

SARS2 (seryl-tRNA synthetase 2, mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000104835
EnsemblGeneIds (GRCh37): ENSG00000104835
OMIM: 612804, Gene2Phenotype
SARS2 is in 13 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

There is enough evidence for this gene to be rated GREEN at the next major review.
Created: 13 Jul 2020, 5:08 p.m. | Last Modified: 13 Jul 2020, 5:08 p.m.
Panel Version: 3.166
Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 3 variants reported in at least 3 unrelated cases. Segregates with the disease.
Created: 13 Jul 2020, 5:07 p.m. | Last Modified: 13 Jul 2020, 5:07 p.m.
Panel Version: 3.166

Zornitza Stark (Australian Genomics)

Green List (high evidence)

DD/ID is part of the phenotype. Two unrelated families reported, highly specific phenotype.
Sources: Expert list
Created: 16 Feb 2020, 6:20 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, MIM#613845

Publications

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

13 Jul 2020, Gel status: 2

Added Tag

Sarah Leigh (Genomics England Curator)

Tag for-review tag was added to gene: SARS2.

13 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: sars2 has been classified as Amber List (Moderate Evidence).

13 Jul 2020, Gel status: 0

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: SARS2 were set to 21255763; 24034276

13 Jul 2020, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: SARS2 were changed from Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, MIM#613845 to Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis 613845

16 Feb 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

gene: SARS2 was added gene: SARS2 was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: SARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SARS2 were set to 21255763; 24034276 Phenotypes for gene: SARS2 were set to Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, MIM#613845 Review for gene: SARS2 was set to GREEN gene: SARS2 was marked as current diagnostic