Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Mitochondrial disorder with complex II deficiency v0.14 | SDHC | Ellen McDonagh Marked gene: SDHC as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorder with complex II deficiency v0.14 | SDHC | Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorder with complex II deficiency v0.14 | SDHC | Ellen McDonagh Gene: sdhc has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorder with complex II deficiency v0.12 | SDHC | Carl Fratter reviewed gene: SDHC: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorder with complex II deficiency v0.9 | SDHC | Anna de Burca Classified gene: SDHC as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorder with complex II deficiency v0.9 | SDHC | Anna de Burca Gene: sdhc has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorder with complex II deficiency v0.3 | SDHC | Ivone Leong reviewed gene: SDHC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorder with complex II deficiency v0.2 | SDHC |
Ivone Leong gene: SDHC was added gene: SDHC was added to Mitochondrial disorder with complex II deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: SDHC was set to Unknown Phenotypes for gene: SDHC were set to No OMIM phenotype |