Hereditary neuropathy or pain disorder
Gene: SARSEnsemblGeneIds (GRCh38): ENSG00000031698
EnsemblGeneIds (GRCh37): ENSG00000031698
OMIM: 607529, Gene2Phenotype
SARS is in 6 panels
3 reviews
Arina Puzriakova (Genomics England Curator)
The rating of this gene has been updated to Green and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' following NHS Genomic Medicine Service approval.Created: 2 May 2024, 9:32 a.m. | Last Modified: 2 May 2024, 9:32 a.m.
Panel Version: 4.3
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on list classification: There is sufficient evidence available for the promotion of SARS1 gene in this panel in the next GMS review.Created: 16 Nov 2023, 5:48 p.m. | Last Modified: 16 Nov 2023, 5:48 p.m.
Panel Version: 3.65
Added new-gene-name tag, new approved HGNC gene symbol for SARS is SARS1.Created: 16 Nov 2023, 5:46 p.m. | Last Modified: 16 Nov 2023, 5:46 p.m.
Panel Version: 3.62
PMID:36088542 - Two different heterozygous missense variants within the aminoacylation domain of SARS1 gene was identified in 16 affected individuals from three unrelated families with Charcot-Marie-Tooth (CMT) disease. The mutant SerRS proteins exhibited reduced aminoacylation activity and abnormal SerRS dimerization, which suggests the impairment of total protein synthesis and induction of eIF2α phosphorylation.
PMID:37706277 - A female patient with demyelinating CMT was identified with a heterozygous variant in SARS1 gene.
Biallelic variants in this gene have already been associated with relevant phenotypes in both OMIM (MIM #617709) and Gene2Phenotype, while monoallelic variants are associated with phenotype only in Gene2Phenotype (with 'limited' rating in the DD panel).Created: 16 Nov 2023, 5:45 p.m. | Last Modified: 16 Nov 2023, 5:45 p.m.
Panel Version: 3.62
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
hereditary peripheral neuropathy, MONDO:0020127
Publications
Christopher Record (UCL Queen Square Institute of Neurology)
Dominant or de novo dominant plausibly causing CMT in four unrelated families. Another amino-acyl tRNA synthetase causing CMT
Sources: Expert ReviewCreated: 9 Nov 2023, 12:25 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
CMTi
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- hereditary peripheral neuropathy, MONDO:0020127
- Tags
- OMIM
- 607529
- Clinvar variants
- Variants in SARS
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Removed Tag, Removed Tag
Arina Puzriakova (Genomics England Curator)Tag Q4_23_promote_green was removed from gene: SARS. Tag Q4_23_NHS_review was removed from gene: SARS.
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)
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: sars has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: SARS were changed from CMTi to hereditary peripheral neuropathy, MONDO:0020127
Set publications
Achchuthan Shanmugasundram (Genomics England Curator)Publications for gene: SARS were set to 37706277,36088542
Added Tag, Added Tag, Added Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag new-gene-name tag was added to gene: SARS. Tag Q4_23_promote_green tag was added to gene: SARS. Tag Q4_23_NHS_review tag was added to gene: SARS.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Christopher Record (UCL Queen Square Institute of Neurology)gene: SARS was added gene: SARS was added to Hereditary neuropathy or pain disorder. Sources: Expert Review Mode of inheritance for gene: SARS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SARS were set to 37706277,36088542 Phenotypes for gene: SARS were set to CMTi Penetrance for gene: SARS were set to Complete Review for gene: SARS was set to GREEN