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| Adult onset neurodegenerative disorder v9.1 | LRSAM1 |
Oliver Ziff gene: LRSAM1 was added gene: LRSAM1 was added to Adult onset neurodegenerative disorder. Sources: Literature,Expert Review Mode of inheritance for gene: LRSAM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LRSAM1 were set to 22781092; 28335037 Phenotypes for gene: LRSAM1 were set to Charcot Marie Toothe disease, axonal, type 2P, 614436 Penetrance for gene: LRSAM1 were set to Complete Mode of pathogenicity for gene: LRSAM1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: LRSAM1 was set to GREEN gene: LRSAM1 was marked as current diagnostic Added comment: Causes CMT2P with marked motor features out of proportion to sensory loss, presenting as an PMA mimic. Needs inclusion in R460.1 to avoid R78 reanalysis. Sources: Literature, Expert Review |
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