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Pain syndromes v0.3 SPTLC1 Zornitza Stark Added phenotypes Neuropathy, hereditary sensory and autonomic, type IA, 162400; HSAN 1; Hereditary sensory neuropathy type IA for gene: SPTLC1
Pain syndromes v0.0 SPTLC1 Zornitza Stark gene: SPTLC1 was added
gene: SPTLC1 was added to Pain syndromes. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: SPTLC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SPTLC1 were set to 11242114; 11242106; 15037712
Phenotypes for gene: SPTLC1 were set to Neuropathy, hereditary sensory and autonomic, type IA, 162400; HSAN 1; Hereditary sensory neuropathy type IA