| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mitochondrial liver disease, including transient infantile liver failure v0.4 | ACAD9 | Ellen McDonagh Marked gene: ACAD9 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial liver disease, including transient infantile liver failure v0.4 | ACAD9 | Ellen McDonagh Gene: acad9 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial liver disease, including transient infantile liver failure v0.4 | ACAD9 | Ellen McDonagh commented on gene: ACAD9: Confirmed on the NHSE GMS Mitochondrial Specialist Group Meeting call on 25th February 2019 that this gene should be Red on this panel due to the clinical indication, as there is insufficient evidence for a liver-specific phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial liver disease, including transient infantile liver failure v0.3 | ACAD9 | Ivone Leong reviewed gene: ACAD9: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 20, 611126; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial liver disease, including transient infantile liver failure v0.2 | ACAD9 |
Ivone Leong gene: ACAD9 was added gene: ACAD9 was added to Mitochondrial liver disease. Sources: NHS GMS Mode of inheritance for gene: ACAD9 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ACAD9 were set to Mitochondrial complex I deficiency, nuclear type 20, 611126 |
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