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Newborns main panel

Gene: SARS

Amber List (moderate evidence)

SARS (seryl-tRNA synthetase)
EnsemblGeneIds (GRCh38): ENSG00000031698
EnsemblGeneIds (GRCh37): ENSG00000031698
OMIM: 607529, Gene2Phenotype
SARS is in 6 panels

1 review

Mafalda Gomes (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol for SARS is SARS1
Created: 25 Oct 2023, 9:01 a.m. | Last Modified: 25 Oct 2023, 9:01 a.m.
Panel Version: 0.250
The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
PMID: 34570399 - 1 recessive case PMID: 36041817 - 1 dominant case PMID: 35790048 - 1 recessive case PMID: 28236339 - 1 recessive case
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.135

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Neurodevelopmental disorder with microcephaly, ataxia, and seizures
Tags
new-gene-name
OMIM
607529
Clinvar variants
Variants in SARS
Penetrance
None
Panels with this gene

History Filter Activity

25 Oct 2023, Gel status: 2

Added Tag

Mafalda Gomes (Genomics England Curator)

Tag new-gene-name tag was added to gene: SARS.

25 Oct 2023, Gel status: 2

Removed Tag, Removed Tag

Mafalda Gomes (Genomics England Curator)

Tag different_gene_name was removed from gene: SARS. Tag SARS1 was removed from gene: SARS.

14 Sep 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to SARS. Added phenotypes Neurodevelopmental disorder with microcephaly, ataxia, and seizures for gene: SARS Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to SARS. Added phenotypes Neurodevelopmental disorder with microcephaly, ataxia, and seizures for gene: SARS Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to SARS. Added phenotypes Neurodevelopmental disorder with microcephaly, ataxia, and seizures for gene: SARS Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

5 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to SARS. Added phenotypes Neurodevelopmental disorder with microcephaly, ataxia, and seizures for gene: SARS Rating Changed from No List (delete) to Green List (high evidence)

27 Mar 2023, Gel status: 0

Added Tag, Added Tag

Mafalda Gomes (Genomics England Curator)

Tag different_gene_name tag was added to gene: SARS. Tag SARS1 tag was added to gene: SARS.

9 Mar 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: SARS was added gene: SARS was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: SARS was set to BIALLELIC, autosomal or pseudoautosomal