| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Regression v0.590 | SLC7A2 | Zornitza Stark Marked gene: SLC7A2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.590 | SLC7A2 | Zornitza Stark Gene: slc7a2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.590 | SLC7A2 | Zornitza Stark Classified gene: SLC7A2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.590 | SLC7A2 | Zornitza Stark Gene: slc7a2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.589 | SLC7A2 |
Zornitza Stark gene: SLC7A2 was added gene: SLC7A2 was added to Regression. Sources: Literature founder tags were added to gene: SLC7A2. Mode of inheritance for gene: SLC7A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC7A2 were set to 41015522 Phenotypes for gene: SLC7A2 were set to Leukodystrophy, MONDO:0019046, SLC7A2-related Review for gene: SLC7A2 was set to AMBER Added comment: RAVINE leukoencephalopathy (RLE) is a hereditary autosomal recessive disease characterized by typical clinical and radiological signs that has so far been observed only in patients of Reunionese origin. The term RAVINE is a French acronym for the main clinical features of the disease: Réunion, Anorexie, Vomissements Incoercibles, signes NEurologiques (Reunion, Anorexia, Intractable Vomiting, NEurological signs). Patients with RLE carry the IVS1-1778A>G mutation of the SLC7A2 gene in the homozygous state. Onset is in infancy. Death typically occurs before the age of 28months in a very narrow time window (23.0±2.2months). PMID 41015522 summarises data from 40 affected individuals. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||