Hereditary neuropathy or pain disorder
Gene: SARS
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
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
Gene: sars has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: SARS were changed from CMTi to hereditary peripheral neuropathy, MONDO:0020127
Publications for gene: SARS were set to 37706277,36088542
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.
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