Activity
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10 actions
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| Possible mitochondrial disorder - nuclear genes v4.4 | COX14 | Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene has also been demoted from green to amber on Mitochondrial disorders panel (https://panelapp.genomicsengland.co.uk/panels/112/gene/COX14/) in response to review from Zornitza Stark (Australian Genomics), and in agreement with the NHS Genomic Medicine Service. Hence, this gene is recommended for demotion on this panel and opinion is being sought from the NHS mitochondrial specialist teams on this. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v4.3 | COX14 |
Achchuthan Shanmugasundram changed review comment from: PMID:22243966 reported one family with a homozygous missense COX14 (C12orf62) variant presenting with severe congenital lactic acidosis and dysmorphic features. There is also functional evidence available in support of the association. However, there is no additional evidence associating this gene to disease in humans. Hence, this gene should be rated amber with the available evidence. This gene is rated amber on the Mitochondrial disease panel in PanelApp Australia (https://panelapp-aus.org/panels/203/gene/COX14/). It is tentatively associated with a disease phenotype in OMIM (MIM #619053) and has limited rating on the DD panel in Gene2Phenotype database.; to: PMID:22243966 reported one family with a homozygous missense COX14 (C12orf62) variant presenting with severe congenital lactic acidosis and dysmorphic features. There is also functional evidence available in support of the association. However, there is no additional evidence associating this gene to disease in humans. Hence, this gene should be rated amber with the available evidence. This gene is rated amber on the Mitochondrial disease panel in PanelApp Australia (https://panelapp-aus.org/panels/203/gene/COX14/). It is tentatively associated with a disease phenotype in OMIM (MIM #619053) and has limited rating on the DD panel in Gene2Phenotype database. |
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| Possible mitochondrial disorder - nuclear genes v4.3 | BTD |
Achchuthan Shanmugasundram changed review comment from: Zornitza Stark (Australian Genomics) has rated BTD red on Mitochondrial disorders panel (https://panelapp.genomicsengland.co.uk/panels/112/gene/BTD/) and has requested that the association between BTD variants and mitochondrial disease could be reviewed. 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 NHS mitochondrial specialist teams on this.; to: Zornitza Stark (Australian Genomics) has rated BTD red on Mitochondrial disorders panel (https://panelapp.genomicsengland.co.uk/panels/112/gene/BTD/) and has requested that the association between BTD variants and mitochondrial disease could be reviewed. 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 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 v1.55 | HTT | Arina Puzriakova Added comment: Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v1.55 | HTT | Arina Puzriakova Mode of inheritance for gene: HTT was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v1.54 | HTT | Arina Puzriakova Phenotypes for gene: HTT were changed from Huntington disease, 143100 to Huntington disease, OMIM:143100 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v1.53 | HTT |
Arina Puzriakova Tag nucleotide-repeat-expansion tag was added to gene: HTT. Tag currently-ngs-unreportable tag was added to gene: HTT. |
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| Possible mitochondrial disorder - nuclear genes v0.5 | HTT | Ivone Leong reviewed gene: HTT: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Huntington disease, 143100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v0.4 | HTT |
Ivone Leong gene: HTT was added gene: HTT was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS Mode of inheritance for gene: HTT was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: HTT were set to Huntington disease, 143100 |
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