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| Mitochondrial liver disease, including transient infantile liver failure v1.4 | SCO1 | Arina Puzriakova Phenotypes for gene: SCO1 were changed from Mitochondrial complex IV deficiency, 220110 to Mitochondrial complex IV deficiency, nuclear type 4, OMIM:619048 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial liver disease, including transient infantile liver failure v0.4 | SCO1 | Ellen McDonagh Marked gene: SCO1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial liver disease, including transient infantile liver failure v0.4 | SCO1 | Ellen McDonagh Added comment: Comment when marking as ready: 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 v0.4 | SCO1 | Ellen McDonagh Gene: sco1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial liver disease, including transient infantile liver failure v0.3 | SCO1 | Ivone Leong reviewed gene: SCO1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex IV deficiency, 220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial liver disease, including transient infantile liver failure v0.2 | SCO1 |
Ivone Leong gene: SCO1 was added gene: SCO1 was added to Mitochondrial liver disease. Sources: NHS GMS Mode of inheritance for gene: SCO1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SCO1 were set to Mitochondrial complex IV deficiency, 220110 |
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