Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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20 actions
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| Inherited phaeochromocytoma and paraganglioma excluding NF1 v4.2 | DNMT3A | Achchuthan Shanmugasundram Tag Q2_26_demote_red tag was added to gene: DNMT3A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited phaeochromocytoma and paraganglioma excluding NF1 v4.2 | DNMT3A | Achchuthan Shanmugasundram Classified gene: DNMT3A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited phaeochromocytoma and paraganglioma excluding NF1 v4.2 | DNMT3A |
Achchuthan Shanmugasundram Added comment: Comment on list classification: Following on the review from Terri McVeigh, request for demotion of this gene from green rating has been requested by the NHS Genomic Medicine Service and verbally agreed with PanelApp team. This change was requested because there are no clinical guidelines to manage variants on this gene on this panel. This change will be implemented at the next update - tagging for demotion. |
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| Inherited phaeochromocytoma and paraganglioma excluding NF1 v4.2 | DNMT3A | Achchuthan Shanmugasundram Gene: dnmt3a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited phaeochromocytoma and paraganglioma excluding NF1 v4.1 | DNMT3A | Achchuthan Shanmugasundram reviewed gene: DNMT3A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited phaeochromocytoma and paraganglioma excluding NF1 v4.1 | DNMT3A | Terri McVeigh reviewed gene: DNMT3A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited phaeochromocytoma and paraganglioma excluding NF1 v3.9 | DNMT3A | Arina Puzriakova Phenotypes for gene: DNMT3A were changed from Heyn-Sproul-Jackson syndrome, OMIM: 618724 to Heyn-Sproul-Jackson syndrome, OMIM:618724 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited phaeochromocytoma and paraganglioma excluding NF1 v3.8 | DNMT3A | Arina Puzriakova Tag Q1_25_ promote_green was removed from gene: DNMT3A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited phaeochromocytoma and paraganglioma excluding NF1 v3.8 | DNMT3A | Arina Puzriakova reviewed gene: DNMT3A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited phaeochromocytoma and paraganglioma excluding NF1 v3.7 | DNMT3A |
Arina Puzriakova Source NHS GMS was added to DNMT3A. Source Expert Review Green was added to DNMT3A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Inherited phaeochromocytoma and paraganglioma excluding NF1 v3.6 | DNMT3A | Sarah Leigh Tag Q1_25_ promote_green tag was added to gene: DNMT3A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited phaeochromocytoma and paraganglioma excluding NF1 v3.6 | DNMT3A | Sarah Leigh edited their review of gene: DNMT3A: Added comment: Four different DNMT3A variants have so far been associated with carotid paragangliomas in a total of ten cases as part of a syndrome. All of the variants are located within the proline-tryptophan-tryptophan-proline (PWWP) domain of DNMT3A (PMID: 29740169; 33182397; 39166703). De novo occurrence of the DNMT3A variant was proven in one case, one variant was inherited from a mother in another case, three were somatic and the inheritance could not be established in five cases (PMID: 29740169; 33182397; 39166703). The DNMT3A variants had a gain of function mechanism, resulting in hypermethylation of polycomb-marked developmental genes and altered chromatin binding specificity (PMID: 39166703).; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited phaeochromocytoma and paraganglioma excluding NF1 v3.6 | DNMT3A | Sarah Leigh Publications for gene: DNMT3A were set to 39166703 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited phaeochromocytoma and paraganglioma excluding NF1 v3.5 | DNMT3A | Sarah Leigh Phenotypes for gene: DNMT3A were changed from Heyn-Sproul-Jackson syndrome, OMIM: 618724 to Heyn-Sproul-Jackson syndrome, OMIM: 618724 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited phaeochromocytoma and paraganglioma excluding NF1 v3.4 | DNMT3A | Sarah Leigh Added comment: Comment on phenotypes: The patient reported in PMID: 39166703 had Heyn-Sproul-Jackson syndrome (OMIM: 618724), with recurrent carotid paragangliomas. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited phaeochromocytoma and paraganglioma excluding NF1 v3.4 | DNMT3A | Sarah Leigh Phenotypes for gene: DNMT3A were changed from Recurrent carotid paragangliomas to Heyn-Sproul-Jackson syndrome, OMIM: 618724 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited phaeochromocytoma and paraganglioma excluding NF1 v3.3 | DNMT3A | Sarah Leigh Phenotypes for gene: DNMT3A were changed from to Recurrent carotid paragangliomas | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited phaeochromocytoma and paraganglioma excluding NF1 v3.2 | DNMT3A | Sarah Leigh Classified gene: DNMT3A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited phaeochromocytoma and paraganglioma excluding NF1 v3.2 | DNMT3A | Sarah Leigh Gene: dnmt3a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited phaeochromocytoma and paraganglioma excluding NF1 v3.1 | DNMT3A |
Dmitrijs Rots gene: DNMT3A was added gene: DNMT3A was added to Inherited phaeochromocytoma and paraganglioma excluding NF1. Sources: Literature Mode of inheritance for gene: DNMT3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DNMT3A were set to 39166703 Penetrance for gene: DNMT3A were set to unknown Mode of pathogenicity for gene: DNMT3A was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: DNMT3A was set to GREEN Added comment: Over multiple case reports, missense variants in DNMT3A PWWP domain seem to be associated with paragangliomas (PMID:39166703). Sources: Literature |
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