1. Panels
  2. Intellectual disability
  3. SARS
Genes in panel
Prev Next
Regions in panel
Prev Next

Intellectual disability

Gene: SARS

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

3 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Created: 11 Oct 2023, 9:34 a.m. | Last Modified: 11 Oct 2023, 9:34 a.m.
Panel Version: 5.286
Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update. At least three unrelated cases with biallelic variants in this gene - DD/ID detected in all families.
Created: 7 Mar 2023, 12:13 p.m. | Last Modified: 7 Mar 2023, 12:13 p.m.
Panel Version: 4.106
Third case identified by Bögershausen et al., 2022 (PMID: 35790048) with compound heterozygous variants in this gene, both inherited from each healthy parent. The proband displayed severe developmental delay, seizures, and severe microcephaly (HC −6.2 SD at 11 yrs old). Structural mapping showed the variant is located in the enzymes active site, likely diminishing activity, but no further functional studies were carried out.
Created: 7 Mar 2023, 11:19 a.m. | Last Modified: 7 Mar 2023, 11:19 a.m.
Panel Version: 4.103

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder with microcephaly, ataxia, and seizures, OMIM:617709

Publications

Created: 7 Mar 2023, 11:19 a.m.
Last Modified: 7 Mar 2023, 11:19 a.m.
Panel version: 5.286

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM and Gene2Phenotype. As there are only 2 cases there is not enough evidence to support a gene-disease association. This gene has been given an Amber rating.
Created: 13 Oct 2021, 1:41 p.m. | Last Modified: 13 Oct 2021, 1:41 p.m.
Panel Version: 3.1356
New gene name is SARS1
Created: 13 Oct 2021, 1:39 p.m. | Last Modified: 13 Oct 2021, 1:39 p.m.
Panel Version: 3.1355
Created: 13 Oct 2021, 1:39 p.m.
Last Modified: 13 Oct 2021, 1:39 p.m.
Panel version: 3.1355

Zornitza Stark (Australian Genomics)

I don't know

Summary - 2 unrelated families with overlapping ID phenotype, and supporting in vitro and patient cell assays.

PMID: 28236339 - an Iranian family (distantly related) segregating a homozygous missense (c.514G>A, p.Asp172Asn) with moderate ID, microcephaly, ataxia, speech impairment, and aggressive behaviour. Also, supporting in vitro functional assays demonstrating altered protein function.
PMID: 34570399 - a consanguineous Turkish family segregating a homozygous missense (c.638G>T, p.(Arg213Leu)) with developmental delay, central deafness, cardiomyopathy, and metabolic decompensation during fever leading to death. Also, reduced protein level and enzymatic activity in patient cells.
Sources: Literature
Created: 11 Oct 2021, 9:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intellectual disability

Publications

Created: 11 Oct 2021, 9:44 a.m.

Panel version: 3.1336

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Neurodevelopmental disorder with microcephaly, ataxia, and seizures, OMIM:617709
Tags
new-gene-name
OMIM
607529
Clinvar variants
Variants in SARS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Oct 2023, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q1_23_promote_green was removed from gene: SARS.

11 Oct 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source NHS GMS was added to SARS. Source Expert Review Green was added to SARS. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

7 Mar 2023, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

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

7 Mar 2023, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: SARS were changed from ?Neurodevelopmental disorder with microcephaly, ataxia, and seizures, OMIM:617709 to Neurodevelopmental disorder with microcephaly, ataxia, and seizures, OMIM:617709

7 Mar 2023, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: SARS were set to 28236339; 34570399

7 Mar 2023, Gel status: 2

Removed Tag, Added Tag

Arina Puzriakova (Genomics England Curator)

Tag watchlist was removed from gene: SARS. Tag Q1_23_promote_green tag was added to gene: SARS.

13 Oct 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

13 Oct 2021, Gel status: 0

Added Tag

Ivone Leong (Genomics England Curator)

Tag watchlist tag was added to gene: SARS.

13 Oct 2021, Gel status: 0

Added Tag

Ivone Leong (Genomics England Curator)

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

13 Oct 2021, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: SARS were changed from Intellectual disability to ?Neurodevelopmental disorder with microcephaly, ataxia, and seizures, OMIM:617709

11 Oct 2021, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: SARS was added gene: SARS was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: SARS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SARS were set to 28236339; 34570399 Phenotypes for gene: SARS were set to Intellectual disability Review for gene: SARS was set to AMBER