Activity
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13 actions
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| Likely inborn error of metabolism v6.10 | CREB3L3 | Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: CREB3L3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v6.10 | CREB3L3 | Achchuthan Shanmugasundram edited their review of gene: CREB3L3: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v6.9 | CREB3L3 |
Achchuthan Shanmugasundram Source Expert Review Green was added to CREB3L3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Likely inborn error of metabolism v5.22 | CREB3L3 | Achchuthan Shanmugasundram Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v5.12 | CREB3L3 | Achchuthan Shanmugasundram Tag Q2_24_promote_green tag was added to gene: CREB3L3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v5.12 | CREB3L3 | Achchuthan Shanmugasundram Classified gene: CREB3L3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v5.12 | CREB3L3 | Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene should be added with green rating on this panel as this gene has been rated green on 'Familial chylomicronaemia syndrome (FCS)' panel (https://panelapp.genomicsengland.co.uk/panels/527/gene/CREB3L3/). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v5.12 | CREB3L3 | Achchuthan Shanmugasundram Gene: creb3l3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v5.11 | CREB3L3 | Achchuthan Shanmugasundram Classified gene: CREB3L3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v5.11 | CREB3L3 | Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene should be added with green rating on this panel as this gene has been rated green on 'Familial chylomicronaemia syndrome (FCS)' panel (https://panelapp.genomicsengland.co.uk/panels/527/gene/CREB3L3/). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v5.11 | CREB3L3 | Achchuthan Shanmugasundram Gene: creb3l3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v5.10 | CREB3L3 | Achchuthan Shanmugasundram Entity copied from Familial chylomicronaemia syndrome (FCS) v3.3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v5.10 | CREB3L3 |
Achchuthan Shanmugasundram gene: CREB3L3 was added gene: CREB3L3 was added to Likely inborn error of metabolism - targeted testing not possible. Sources: Expert Review Green,South West GLH,NHS GMS Mode of inheritance for gene: CREB3L3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CREB3L3 were set to 29954705; 21666694; 26427795; 22135386 Phenotypes for gene: CREB3L3 were set to Hypertriglyceridemia 2, OMIM:619324; Hypertriglyceridemia (disease) MONDO:0005347 |
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