Activity
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14 actions
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| 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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