| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mitochondrial disorder with complex I deficiency v0.63 | NDUFB8 | Ellen McDonagh Marked gene: NDUFB8 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex I deficiency v0.63 | NDUFB8 | Ellen McDonagh Gene: ndufb8 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex I deficiency v0.63 | NDUFB8 | Ellen McDonagh Classified gene: NDUFB8 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex I deficiency v0.63 | NDUFB8 | Ellen McDonagh Added comment: Comment on list classification: This gene was promoted from Amber to Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex I deficiency v0.63 | NDUFB8 | Ellen McDonagh Gene: ndufb8 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex I deficiency v0.62 | NDUFB8 | Ellen McDonagh Publications for gene: NDUFB8 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex I deficiency v0.36 | NDUFB8 | Carl Fratter reviewed gene: NDUFB8: Rating: GREEN; Mode of pathogenicity: ; Publications: 27290639, 29429571; Phenotypes: Mitochondrial complex I deficiency, nuclear type 32, 618252; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex I deficiency v0.29 | NDUFB8 | Ellen McDonagh Classified gene: NDUFB8 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex I deficiency v0.29 | NDUFB8 | Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.131) - further evidence needs to be submitted to support promoting this gene family member to Green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex I deficiency v0.29 | NDUFB8 | Ellen McDonagh Gene: ndufb8 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex I deficiency v0.3 | NDUFB8 | Ivone Leong reviewed gene: NDUFB8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 32, 618252; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex I deficiency v0.2 | NDUFB8 |
Ivone Leong gene: NDUFB8 was added gene: NDUFB8 was added to Mitochondrial disorder with complex I deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: NDUFB8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFB8 were set to Mitochondrial complex I deficiency, nuclear type 32, 618252 |
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