| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Mitochondrial liver disease, including transient infantile liver failure v0.3 | BCS1L | Ivone Leong reviewed gene: BCS1L: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex III deficiency, nuclear type 1, 124000, Leigh syndrome, 256000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial liver disease, including transient infantile liver failure v0.2 | BCS1L |
Ivone Leong gene: BCS1L was added gene: BCS1L was added to Mitochondrial liver disease. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: BCS1L was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BCS1L were set to Mitochondrial complex III deficiency, nuclear type 1, 124000; Leigh syndrome, 256000 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||