Activity
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14 actions
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| Possible mitochondrial disorder, nuclear genes v2.5 | NDUFA12 |
Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: NDUFA12. Tag Q3_22_NHS_review was removed from gene: NDUFA12. |
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| Possible mitochondrial disorder, nuclear genes v2.5 | NDUFA12 | Achchuthan Shanmugasundram reviewed gene: NDUFA12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder, nuclear genes v2.4 | NDUFA12 |
Achchuthan Shanmugasundram Source Expert Review Green was added to NDUFA12. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Possible mitochondrial disorder, nuclear genes v1.117 | NDUFA12 | Arina Puzriakova Phenotypes for gene: NDUFA12 were changed from ?Mitochondrial complex I deficiency, nuclear type 23, 618244 to Mitochondrial complex I deficiency, nuclear type 23, OMIM:618244 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder, nuclear genes v1.116 | NDUFA12 | Arina Puzriakova Publications for gene: NDUFA12 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder, nuclear genes v1.99 | NDUFA12 | Arina Puzriakova commented on gene: NDUFA12: 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 | NDUFA12 | Arina Puzriakova reviewed gene: NDUFA12: Rating: GREEN; Mode of pathogenicity: ; Publications: 33715266, 21617257, 35141356; Phenotypes: Mitochondrial complex I deficiency, nuclear type 23, OMIM:618244; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder, nuclear genes v1.95 | NDUFA12 |
Arina Puzriakova Tag Q3_22_rating tag was added to gene: NDUFA12. Tag Q3_22_NHS_review tag was added to gene: NDUFA12. |
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| Possible mitochondrial disorder, nuclear genes v0.134 | NDUFA12 | Carl Fratter reviewed gene: NDUFA12: Rating: AMBER; Mode of pathogenicity: ; Publications: 21617257; Phenotypes: ?Mitochondrial complex I deficiency, nuclear type 23, 618244; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder, nuclear genes v0.42 | NDUFA12 | Ellen McDonagh Classified gene: NDUFA12 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder, nuclear genes v0.42 | NDUFA12 | 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 v0.42 | NDUFA12 | Ellen McDonagh Gene: ndufa12 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder, nuclear genes v0.5 | NDUFA12 | Ivone Leong reviewed gene: NDUFA12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Mitochondrial complex I deficiency, nuclear type 23, 618244; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder, nuclear genes v0.2 | NDUFA12 |
Ivone Leong gene: NDUFA12 was added gene: NDUFA12 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: NDUFA12 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFA12 were set to ?Mitochondrial complex I deficiency, nuclear type 23, 618244 |
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