29 Mar 2022
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
29 Mar 2022
Undiagnosed metabolic disorders v1.515
SPTLC1
Sarah Leigh Publications for gene: SPTLC1 were set to 27604308; 20097765; 21618344; 20097765; 30420926
29 Mar 2022
Undiagnosed metabolic disorders v1.514
SPTLC1
Sarah Leigh Deleted their comment
29 Mar 2022
Undiagnosed metabolic disorders v1.514
SPTLC1
Sarah Leigh Deleted their comment
29 Mar 2022
Undiagnosed metabolic disorders v1.514
SPTLC1
Sarah Leigh Deleted their comment
26 Sep 2019
Undiagnosed metabolic disorders v1.316
SPTLC1
Catherine Snow Publications for gene: SPTLC1 were set to 27604308
26 Sep 2019
Undiagnosed metabolic disorders v1.315
SPTLC1
Catherine Snow Classified gene: SPTLC1 as Green List (high evidence)
26 Sep 2019
Undiagnosed metabolic disorders v1.315
SPTLC1
Catherine Snow Gene: sptlc1 has been classified as Green List (High Evidence).
26 Sep 2019
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
06 Jan 2017
Undiagnosed metabolic disorders
SPTLC1
Sarah Leigh edited their review of SPTLC1
06 Jan 2017
Undiagnosed metabolic disorders
SPTLC1
Sarah Leigh edited their review of SPTLC1
06 Jan 2017
Undiagnosed metabolic disorders
SPTLC1
Sarah Leigh edited their review of SPTLC1
06 Jan 2017
Undiagnosed metabolic disorders
SPTLC1
Sarah Leigh reviewed SPTLC1