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Undiagnosed metabolic disorders v1.516 SPTLC1 Sarah Leigh Mode of inheritance for gene: SPTLC1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Undiagnosed metabolic disorders v1.515 SPTLC1 Sarah Leigh Publications for gene: SPTLC1 were set to 27604308; 20097765; 21618344; 20097765; 30420926
Undiagnosed metabolic disorders v1.514 SPTLC1 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.514 SPTLC1 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.514 SPTLC1 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.316 SPTLC1 Catherine Snow Publications for gene: SPTLC1 were set to 27604308
Undiagnosed metabolic disorders v1.315 SPTLC1 Catherine Snow Classified gene: SPTLC1 as Green List (high evidence)
Undiagnosed metabolic disorders v1.315 SPTLC1 Catherine Snow Gene: sptlc1 has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.314 SPTLC1 Catherine Snow reviewed gene: SPTLC1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 20097765, 21618344, 20097765, 30420926; Phenotypes: Neuropathy, hereditary sensory and autonomic, type IA, 162400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Undiagnosed metabolic disorders SPTLC1 Sarah Leigh edited their review of SPTLC1
Undiagnosed metabolic disorders SPTLC1 Sarah Leigh edited their review of SPTLC1
Undiagnosed metabolic disorders SPTLC1 Sarah Leigh edited their review of SPTLC1
Undiagnosed metabolic disorders SPTLC1 Sarah Leigh reviewed SPTLC1