| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mitochondrial disorder with complex IV deficiency v0.6 | OXA1L | Ellen McDonagh Marked gene: OXA1L as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex IV deficiency v0.6 | OXA1L | Ellen McDonagh Gene: oxa1l has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex IV deficiency v0.6 | OXA1L | Ellen McDonagh Classified gene: OXA1L as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex IV deficiency v0.6 | OXA1L | Ellen McDonagh Added comment: Comment on list classification: Confirmed on the NHSE GMS Mitochondrial Specialist Group Meeting call on 25th February 2019 that this gene should be Amber on this panel due to the evidence level; only a single family report has been published. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex IV deficiency v0.6 | OXA1L | Ellen McDonagh Gene: oxa1l has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex IV deficiency v0.3 | OXA1L | Ivone Leong reviewed gene: OXA1L: Rating: GREEN; Mode of pathogenicity: ; Publications: 30201738; Phenotypes: No OMIM phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex IV deficiency v0.2 | OXA1L |
Ivone Leong gene: OXA1L was added gene: OXA1L was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: OXA1L was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OXA1L were set to 30201738 Phenotypes for gene: OXA1L were set to No OMIM phenotype |
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