Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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13 actions
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| Likely inborn error of metabolism v8.100 | HPDL | Ida Ertmanska Tag gene-checked was removed from gene: HPDL. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.94 | HPDL | Achchuthan Shanmugasundram Tag Q2_25_ promote_green was removed from gene: HPDL. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.94 | HPDL | Achchuthan Shanmugasundram commented on gene: HPDL: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.93 | HPDL |
Achchuthan Shanmugasundram Source Expert Review Green was added to HPDL. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Likely inborn error of metabolism v8.92 | HPDL | Achchuthan Shanmugasundram edited their review of gene: HPDL: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.24 | HPDL |
Achchuthan Shanmugasundram changed review comment from: Comment on list classification: HPDL has already been promoted to green rating on Mitochondrial disorders panel (https://panelapp.genomicsengland.co.uk/panels/112/gene/HPDL/), as detailed in the below reviews copied from that panel. As there is sufficient evidence available for the gene-disease association and HPDL is suggested to have a potential role in mitochondrial metabolism, this gene can be promoted to green rating in this panel in the next GMS update.; to: Comment on list classification: HPDL has already been promoted to green rating on Mitochondrial disorders panel (https://panelapp.genomicsengland.co.uk/panels/112/gene/HPDL/), as detailed in the below reviews copied from that panel. As there is sufficient evidence available for the gene-disease association and HPDL is suggested to have a potential role in mitochondrial metabolism, this gene can be promoted to green rating on this panel in the next GMS update. |
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| Likely inborn error of metabolism v8.23 | HPDL |
Achchuthan Shanmugasundram changed review comment from: Comment on list classification: HPDL has already been promoted to green rating on Mitochondrial disorders panel (https://panelapp.genomicsengland.co.uk/panels/112/gene/HPDL/), as detailed in the below reviews copied from that panel. As there is sufficient evidence available for the gene-disease association and HPDL is suggested to have a potential role in mitochondrial metabolism, this gene can be promoted to green rating in this panel in the next GMS update.; to: Comment on list classification: HPDL has already been promoted to green rating on Mitochondrial disorders panel (https://panelapp.genomicsengland.co.uk/panels/112/gene/HPDL/), as detailed in the below reviews copied from that panel. As there is sufficient evidence available for the gene-disease association and HPDL is suggested to have a potential role in mitochondrial metabolism, this gene can be promoted to green rating in this panel in the next GMS update. |
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| Likely inborn error of metabolism v8.23 | HPDL | Achchuthan Shanmugasundram Classified gene: HPDL as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.23 | HPDL | Achchuthan Shanmugasundram Added comment: Comment on list classification: HPDL has already been promoted to green rating on Mitochondrial disorders panel (https://panelapp.genomicsengland.co.uk/panels/112/gene/HPDL/), as detailed in the below reviews copied from that panel. As there is sufficient evidence available for the gene-disease association and HPDL is suggested to have a potential role in mitochondrial metabolism, this gene can be promoted to green rating in this panel in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.23 | HPDL | Achchuthan Shanmugasundram Gene: hpdl has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.22 | HPDL | Achchuthan Shanmugasundram Tag Q2_25_ promote_green tag was added to gene: HPDL. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.22 | HPDL | Achchuthan Shanmugasundram Entity copied from Mitochondrial disorders v9.15 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.22 | HPDL |
Achchuthan Shanmugasundram gene: HPDL was added gene: HPDL was added to Likely inborn error of metabolism. Sources: Literature,NHS GMS,Expert Review Green gene-checked tags were added to gene: HPDL. Mode of inheritance for gene: HPDL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HPDL were set to 32707086 Phenotypes for gene: HPDL were set to Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities OMIM:619026; Spastic paraplegia 83, autosomal recessive OMIM:619027 |
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