Activity
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16 actions
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| Inherited phaeochromocytoma and paraganglioma excluding NF1 v2.8 | MDH2 | Achchuthan Shanmugasundram Tag curated_removed tag was added to gene: MDH2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited phaeochromocytoma and paraganglioma excluding NF1 v2.8 | MDH2 |
Achchuthan Shanmugasundram Tag Q4_23_demote_red was removed from gene: MDH2. Tag Q4_23_NHS_review was removed from gene: MDH2. Tag Q4_23_expert_review was removed from gene: MDH2. |
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| Inherited phaeochromocytoma and paraganglioma excluding NF1 v2.8 | MDH2 | Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated togreyfollowing NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to grey following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited phaeochromocytoma and paraganglioma excluding NF1 v2.8 | MDH2 | Achchuthan Shanmugasundram commented on gene: MDH2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited phaeochromocytoma and paraganglioma excluding NF1 v2.7 | MDH2 |
Achchuthan Shanmugasundram Source Expert Review Removed was added to MDH2. Rating Changed from Green List (high evidence) to No List (delete) |
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| Inherited phaeochromocytoma and paraganglioma excluding NF1 v2.6 | MDH2 | Ivone Leong Tag Q4_23_demote_red tag was added to gene: MDH2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited phaeochromocytoma and paraganglioma excluding NF1 v2.6 | MDH2 |
Ivone Leong Tag Q4_23_NHS_review tag was added to gene: MDH2. Tag Q4_23_expert_review tag was added to gene: MDH2. |
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| Inherited phaeochromocytoma and paraganglioma excluding NF1 v2.6 | MDH2 | Ivone Leong commented on gene: MDH2: This gene has been tagged for additional expert review due to conflicting reviews. The gene rating will remain Green pending the results of the expert review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited phaeochromocytoma and paraganglioma excluding NF1 v2.5 | MDH2 | Ivone Leong Phenotypes for gene: MDH2 were changed from PPGL to PPGL; pheochromocytoma-paraganglioma, MONDO:0035540 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited phaeochromocytoma and paraganglioma excluding NF1 v2.2 | MDH2 | Terri McVeigh reviewed gene: MDH2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited phaeochromocytoma and paraganglioma excluding NF1 v1.21 | MDH2 | Ivone Leong Tag for-review was removed from gene: MDH2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited phaeochromocytoma and paraganglioma excluding NF1 v1.21 | MDH2 | Ivone Leong commented on gene: MDH2: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited phaeochromocytoma and paraganglioma excluding NF1 v1.20 | MDH2 |
Ivone Leong Source Expert Review Green was added to MDH2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Inherited phaeochromocytoma and paraganglioma excluding NF1 v1.7 | MDH2 | Ivone Leong Classified gene: MDH2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited phaeochromocytoma and paraganglioma excluding NF1 v1.7 | MDH2 | Ivone Leong Gene: mdh2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited phaeochromocytoma and paraganglioma excluding NF1 v1.6 | MDH2 |
Ivone Leong gene: MDH2 was added gene: MDH2 was added to Inherited phaeochromocytoma and paraganglioma excluding NF1. Sources: Expert Review for-review tags were added to gene: MDH2. Mode of inheritance for gene: MDH2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MDH2 were set to 30008476; 25766404 Phenotypes for gene: MDH2 were set to PPGL Review for gene: MDH2 was set to GREEN Added comment: This gene is associated with a phenotype in OMIM and Gene2Phenotype. There are >3 cases and therefore, there is enough evidence to support a gene-disease association. This gene should be rated Green at the next review. This gene was suggested to be added and given a Green rating by Ruth Casey (Cambridge University Hospital). Sources: Expert Review |
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