| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Miscellaneous Metabolic Disorders v0.80 | SPTLC1 | Zornitza Stark Marked gene: SPTLC1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.80 | SPTLC1 | Zornitza Stark Gene: sptlc1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.80 | SPTLC1 | Zornitza Stark Classified gene: SPTLC1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.80 | SPTLC1 | Zornitza Stark Gene: sptlc1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.79 | SPTLC1 |
Zornitza Stark gene: SPTLC1 was added gene: SPTLC1 was added to Miscellaneous Metabolic Disorders. Sources: Expert list Mode of inheritance for gene: SPTLC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SPTLC1 were set to 27604308; 20097765; 21618344; 20097765; 30420926 Phenotypes for gene: SPTLC1 were set to Neuropathy, hereditary sensory and autonomic, type IA, MIM# 162400; Serine palmitoyl transferase deficiency (Disorders of complex lipid synthesis) Review for gene: SPTLC1 was set to GREEN Added comment: Well established gene-disease association. Sources: Expert list |
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