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Intellectual disability

Gene: SARS

Amber List (moderate evidence)

SARS (seryl-tRNA synthetase)
EnsemblGeneIds (GRCh38): ENSG00000031698
EnsemblGeneIds (GRCh37): ENSG00000031698
OMIM: 607529, Gene2Phenotype
SARS is in 4 panels

2 reviews

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

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

Details

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

History Filter Activity

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