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Intellectual disability

Gene: SARS2

No list

SARS2 (seryl-tRNA synthetase 2, mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000104835
EnsemblGeneIds (GRCh37): ENSG00000104835
OMIM: 612804, Gene2Phenotype
SARS2 is in 10 panels

1 review

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

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