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| Hereditary Neuropathy_CMT - isolated v1.52 | NARS |
Chris Ciotta changed review comment from: Three families reported in the literature with heterozygous NARS1 variants and an isolated peripheral neuropathy phenotype, lacking the global developmental delay, seizures and intellectual disability and more seen in the dominant and recessive neurodevelopmental disorder phenotypes listed in OMIM (MIM#619091 and MIM#619092). Beijer (2024) (PMID: 38495304): Two families with previously unreported missense variants and an isolated neuropathy phenotype. Segregation of this variant with disease also shown. Both missense variants severely reduced yeast growth compared to wildtype in a yeast rescue complementation assay. A mouse model expressing the p.Ser461Phe variant did not show any signs of peripheral neuropathy in mice heterozygous for this variant at multiple time points to 18 months of age. Theuriet (2024) (PMID: 38769024): A novel missense reported in a French family with distal hereditary motor neuropathy. A mother and two sons all with an isolated phenotype with no seizures or ID. Mother presented in 30s and two sons presented 5 and 3 with toe walking. A yeast model was also done here with this variant allowing for no growth compared to wildtype. Sources: Literature; to: Three families reported in the literature with heterozygous NARS1 variants and an isolated peripheral neuropathy phenotype, lacking the global developmental delay, seizures and intellectual disability and more seen in the dominant and recessive neurodevelopmental disorder phenotypes listed in OMIM (MIM#619091 and MIM#619092). Beijer (2024) (PMID: 38495304): Two families with previously unreported missense variants and an isolated neuropathy phenotype. Segregation of these variants with disease also shown. Both missense variants severely reduced yeast growth compared to wildtype in a yeast rescue complementation assay. A mouse model expressing the p.Ser461Phe variant did not show any signs of peripheral neuropathy in mice heterozygous for this variant at multiple time points to 18 months of age. Theuriet (2024) (PMID: 38769024): A novel missense reported in a French family with distal hereditary motor neuropathy. A mother and two sons all with an isolated phenotype with no seizures or ID. Mother presented in 30s and two sons presented 5 and 3 with toe walking. A yeast model was also done here with this variant allowing for no growth compared to wildtype. Sources: Literature |
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| Hereditary Neuropathy_CMT - isolated v1.52 | NARS |
Chris Ciotta gene: NARS was added gene: NARS was added to Hereditary Neuropathy_CMT - isolated. Sources: Literature Mode of inheritance for gene: NARS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NARS were set to PMID: 38495304; 38769024 Phenotypes for gene: NARS were set to Axonal neuropathy; Charcot-Marie-Tooth disease; distal hereditary motor neuropathy Review for gene: NARS was set to AMBER Added comment: Three families reported in the literature with heterozygous NARS1 variants and an isolated peripheral neuropathy phenotype, lacking the global developmental delay, seizures and intellectual disability and more seen in the dominant and recessive neurodevelopmental disorder phenotypes listed in OMIM (MIM#619091 and MIM#619092). Beijer (2024) (PMID: 38495304): Two families with previously unreported missense variants and an isolated neuropathy phenotype. Segregation of this variant with disease also shown. Both missense variants severely reduced yeast growth compared to wildtype in a yeast rescue complementation assay. A mouse model expressing the p.Ser461Phe variant did not show any signs of peripheral neuropathy in mice heterozygous for this variant at multiple time points to 18 months of age. Theuriet (2024) (PMID: 38769024): A novel missense reported in a French family with distal hereditary motor neuropathy. A mother and two sons all with an isolated phenotype with no seizures or ID. Mother presented in 30s and two sons presented 5 and 3 with toe walking. A yeast model was also done here with this variant allowing for no growth compared to wildtype. Sources: Literature |
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