Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v8.21 | ACSL4 | Sarah Leigh reviewed gene: ACSL4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v8.21 | ACSL4 | Sarah Leigh Classified gene: ACSL4 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v8.21 | ACSL4 | Sarah Leigh Gene: acsl4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.47 | ACSL4 |
Andžela Lazdāne gene: ACSL4 was added gene: ACSL4 was added to Mitochondrial disorders. Sources: Literature Mode of inheritance for gene: ACSL4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: ACSL4 were set to PMID: 33340416 Phenotypes for gene: ACSL4 were set to Long-chain fatty acid-CoA ligase 4 deficiency; Mental retardation; Autistic features; Intellectual disability Review for gene: ACSL4 was set to GREEN Added comment: X-linked intellectual disability type 63. The gene is included in international classification of inherited metabolic disorders (ICIMD), Disorders of lipid metabolism. IEM Nosology Group (IEMbase): Disorders of cytoplasmic triglyceride metabolism. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||