| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mitochondrial disorder with complex I deficiency v1.15 | NDUFAF8 | Eleanor Williams Tag gene-checked tag was added to gene: NDUFAF8. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex I deficiency v1.14 | NDUFAF8 | Ivone Leong Phenotypes for gene: NDUFAF8 were changed from No OMIM phenotype to Mitochondrial complex I deficiency, nuclear type 34, OMIM:618776 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex I deficiency v0.52 | NDUFAF8 | Ellen McDonagh Marked gene: NDUFAF8 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex I deficiency v0.52 | NDUFAF8 | Ellen McDonagh Gene: ndufaf8 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex I deficiency v0.52 | NDUFAF8 | Ellen McDonagh Classified gene: NDUFAF8 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex I deficiency v0.52 | NDUFAF8 | Ellen McDonagh Added comment: Comment on list classification: 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 v0.52 | NDUFAF8 | Ellen McDonagh Gene: ndufaf8 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex I deficiency v0.36 | NDUFAF8 | Carl Fratter reviewed gene: NDUFAF8: Rating: GREEN; Mode of pathogenicity: ; Publications: 27499296; Phenotypes: No OMIM phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex I deficiency v0.21 | NDUFAF8 | Ellen McDonagh Classified gene: NDUFAF8 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex I deficiency v0.21 | NDUFAF8 | Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.131) and is not in OMIM associated with a disease - further evidence needs to be submitted to support promoting this gene family member to Green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex I deficiency v0.21 | NDUFAF8 | Ellen McDonagh Gene: ndufaf8 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex I deficiency v0.3 | NDUFAF8 | Ivone Leong reviewed gene: NDUFAF8: Rating: GREEN; Mode of pathogenicity: ; Publications: 27499296; Phenotypes: No OMIM phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex I deficiency v0.2 | NDUFAF8 |
Ivone Leong gene: NDUFAF8 was added gene: NDUFAF8 was added to Mitochondrial disorder with complex I deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: NDUFAF8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFAF8 were set to 27499296 Phenotypes for gene: NDUFAF8 were set to No OMIM phenotype |
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