Activity
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10 actions
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| Possible mitochondrial disorder - nuclear genes v4.17 | ANO10 | Ida Ertmanska reviewed gene: ANO10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v4.16 | ANO10 |
Ida Ertmanska Tag Q2_25_expert_review was removed from gene: ANO10. Tag Q2_25_ demote_amber was removed from gene: ANO10. |
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| Possible mitochondrial disorder - nuclear genes v4.16 | ANO10 |
Ida Ertmanska Source Expert Review Amber was added to ANO10. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| Possible mitochondrial disorder - nuclear genes v4.3 | ANO10 |
Achchuthan Shanmugasundram changed review comment from: Zornitza Stark (Australian Genomics) has rated ANO10 red on Mitochondrial disorders panel (https://panelapp.genomicsengland.co.uk/panels/112/gene/ANO10/) and has requested that the association between ANO10 variants and mitochondrial disease could be reviewed. She suggested that the reported CoQ10 deficiency appears to be secondary in the cited publication. This gene has been demoted to amber in Mitochondrial disorders panel after reviewed and agreed by the NHS Genomic Medicine Service. Hence, this gene is now being recommended for demotion to amber on this panel and opinion is being sought from NHS mitochondrial specialist teams on this.; to: Zornitza Stark (Australian Genomics) has rated ANO10 red on Mitochondrial disorders panel (https://panelapp.genomicsengland.co.uk/panels/112/gene/ANO10/) and has requested that the association between ANO10 variants and mitochondrial disease could be reviewed. She suggested that the reported CoQ10 deficiency appears to be secondary in the cited publication. This gene has been demoted to amber in Mitochondrial disorders panel after being reviewed and agreed by the NHS Genomic Medicine Service. Hence, this gene is now recommended for demotion to amber on this panel and opinion is being sought from the NHS mitochondrial specialist teams on this. |
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| Possible mitochondrial disorder - nuclear genes v4.3 | ANO10 | Achchuthan Shanmugasundram Phenotypes for gene: ANO10 were changed from Spinocerebellar ataxia, autosomal recessive 10, 613728 to Spinocerebellar ataxia, autosomal recessive 10, OMIM:613728 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v4.2 | ANO10 | Achchuthan Shanmugasundram Publications for gene: ANO10 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v4.1 | ANO10 |
Achchuthan Shanmugasundram Tag Q2_25_expert_review tag was added to gene: ANO10. Tag Q2_25_ demote_amber tag was added to gene: ANO10. |
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| Possible mitochondrial disorder - nuclear genes v4.1 | ANO10 | Achchuthan Shanmugasundram reviewed gene: ANO10: Rating: AMBER; Mode of pathogenicity: None; Publications: 25778941; Phenotypes: Spinocerebellar ataxia, autosomal recessive 10, OMIM:613728; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v0.5 | ANO10 | Ivone Leong reviewed gene: ANO10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia, autosomal recessive 10, 613728; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v0.2 | ANO10 |
Ivone Leong gene: ANO10 was added gene: ANO10 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ANO10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ANO10 were set to Spinocerebellar ataxia, autosomal recessive 10, 613728 |
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