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| Hereditary Neuropathy v1.151 | Bryony Thompson Copied gene REEP1 from panel Hereditary Neuropathy_CMT - isolated | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v1.151 | REEP1 |
Bryony Thompson gene: REEP1 was added gene: REEP1 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: REEP1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: REEP1 were set to 27066569; 31872057; 22703882; 29124833 Phenotypes for gene: REEP1 were set to Spinal muscular atrophy, distal, autosomal recessive, 6, MIM#620011; Neuronopathy, distal hereditary motor, type VB MIM#614751; Spastic paraplegia 31, autosomal dominant MIM#610250 Mode of pathogenicity for gene: REEP1 was set to Other |
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