Activity
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9 actions
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| Possible mitochondrial disorder - nuclear genes v4.19 | BTD | Ida Ertmanska changed review comment from: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains green.; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains green. ClinGen mitochondrial gene curation expert panel classified the association between BTD and Leigh syndrome as Moderate. Biotinidase deficiency leads to deficiency of a number of carboxylases including pyruvate carboxylase (PC) and PC is also a green gene on this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v4.17 | BTD | Ida Ertmanska commented on gene: BTD | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v4.16 | BTD |
Ida Ertmanska Tag Q2_25_expert_review was removed from gene: BTD. Tag Q2_25_ demote_amber was removed from gene: BTD. |
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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 | BTD |
Achchuthan Shanmugasundram Tag Q2_25_expert_review tag was added to gene: BTD. Tag Q2_25_ demote_amber tag was added to gene: BTD. |
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| Possible mitochondrial disorder - nuclear genes v4.3 | BTD | Achchuthan Shanmugasundram reviewed gene: BTD: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v3.87 | BTD | Mohamed Nassr commented on gene: BTD | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v0.5 | BTD | Ivone Leong reviewed gene: BTD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Biotinidase deficiency, 253260; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v0.2 | BTD |
Ivone Leong gene: BTD was added gene: BTD was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: BTD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BTD were set to Biotinidase deficiency, 253260 |
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