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| Hereditary neuropathy or pain disorder v4.6 | SARS |
Arina Puzriakova Tag Q4_23_promote_green was removed from gene: SARS. Tag Q4_23_NHS_review was removed from gene: SARS. |
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| Hereditary neuropathy or pain disorder v4.3 | SARS | Arina Puzriakova reviewed gene: SARS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v4.2 | SARS |
Arina Puzriakova 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) |
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| Hereditary neuropathy or pain disorder v3.65 | SARS | Achchuthan Shanmugasundram Classified gene: SARS as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v3.65 | SARS | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the promotion of SARS1 gene in this panel in the next GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v3.65 | SARS | Achchuthan Shanmugasundram Gene: sars has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v3.64 | SARS | Achchuthan Shanmugasundram Phenotypes for gene: SARS were changed from CMTi to hereditary peripheral neuropathy, MONDO:0020127 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v3.63 | SARS | Achchuthan Shanmugasundram Publications for gene: SARS were set to 37706277,36088542 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v3.62 | SARS |
Achchuthan Shanmugasundram 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. |
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| Hereditary neuropathy or pain disorder v3.62 | SARS | Achchuthan Shanmugasundram commented on gene: SARS: Added new-gene-name tag, new approved HGNC gene symbol for SARS is SARS1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v3.62 | SARS |
Achchuthan Shanmugasundram changed review comment from: 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).; to: 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). |
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| Hereditary neuropathy or pain disorder v3.62 | SARS | Achchuthan Shanmugasundram reviewed gene: SARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 36088542, 37706277; Phenotypes: hereditary peripheral neuropathy, MONDO:0020127; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v3.62 | SARS |
Christopher Record 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 Added comment: Dominant or de novo dominant plausibly causing CMT in four unrelated families. Another amino-acyl tRNA synthetase causing CMT Sources: Expert Review |
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