Activity
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16 actions
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| Possible mitochondrial disorder, nuclear genes v2.5 | NDUFA8 |
Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: NDUFA8. Tag Q3_22_NHS_review was removed from gene: NDUFA8. |
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| Possible mitochondrial disorder, nuclear genes v2.5 | NDUFA8 | Achchuthan Shanmugasundram reviewed gene: NDUFA8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder, nuclear genes v2.4 | NDUFA8 |
Achchuthan Shanmugasundram Source Expert Review Green was added to NDUFA8. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Possible mitochondrial disorder, nuclear genes v1.123 | NDUFA8 | Arina Puzriakova Phenotypes for gene: NDUFA8 were changed from Mitochondrial complex I deficiency, nuclear type 37, OMIM: 619272 to Mitochondrial complex I deficiency, nuclear type 37, OMIM:619272 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder, nuclear genes v1.122 | NDUFA8 | Arina Puzriakova Phenotypes for gene: NDUFA8 were changed from No OMIM phenotype to Mitochondrial complex I deficiency, nuclear type 37, OMIM: 619272 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder, nuclear genes v1.121 | NDUFA8 | Arina Puzriakova Publications for gene: NDUFA8 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder, nuclear genes v1.120 | NDUFA8 | Arina Puzriakova Mode of inheritance for gene: NDUFA8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder, nuclear genes v1.99 | NDUFA8 | Arina Puzriakova commented on gene: NDUFA8: Gene list provided by Carl Fratter (Oxford University Hospitals NHS Trust) in August 2022 on behalf of the three GMS Mitochondrial providers, indicating that this gene requires a rating upgrade from Amber to Green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder, nuclear genes v1.98 | NDUFA8 | Arina Puzriakova reviewed gene: NDUFA8: Rating: GREEN; Mode of pathogenicity: ; Publications: 33153867, 32385911; Phenotypes: Mitochondrial complex I deficiency, nuclear type 37, OMIM: 619272; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder, nuclear genes v1.95 | NDUFA8 |
Arina Puzriakova Tag Q3_22_rating tag was added to gene: NDUFA8. Tag Q3_22_NHS_review tag was added to gene: NDUFA8. |
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| Possible mitochondrial disorder, nuclear genes v0.134 | NDUFA8 | Carl Fratter reviewed gene: NDUFA8: Rating: AMBER; Mode of pathogenicity: ; Publications: 15576045; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder, nuclear genes v0.49 | NDUFA8 | Ellen McDonagh Classified gene: NDUFA8 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder, nuclear genes v0.49 | NDUFA8 | 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 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder, nuclear genes v0.49 | NDUFA8 | Ellen McDonagh Gene: ndufa8 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder, nuclear genes v0.5 | NDUFA8 | Ivone Leong reviewed gene: NDUFA8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder, nuclear genes v0.2 | NDUFA8 |
Ivone Leong gene: NDUFA8 was added gene: NDUFA8 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: NDUFA8 was set to Unknown Phenotypes for gene: NDUFA8 were set to No OMIM phenotype |
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