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| Vascular Malformations_Germline v1.1 | PDGFRB |
Natasha Brown gene: PDGFRB was added gene: PDGFRB was added to Vascular Malformations_Germline. Sources: Literature Mode of inheritance for gene: PDGFRB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PDGFRB were set to PMID: 33683022; 32291752 Phenotypes for gene: PDGFRB were set to aneurysm; scoliosis; atrophic skin; stroke; infantile myofibromatosis Mode of pathogenicity for gene: PDGFRB 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: PDGFRB was set to GREEN Added comment: PMID: 33683022 describes 2 new cases of somatic mosaic variants in this gene with connective tissue/Marfanoid/progeriod phenotypes plus overgrowth (multiple aneurysms, varicosities, increased skin elasticity, pulmonary cysts), the same missense variant present in both patients in tissue (PDGFRB (NM_002609.3) c.1685A > G, p.(Tyr562Cys)). PMID: 32291752 Three unrelated cases with heterozygous activating germline variants reviewed with similar phenotypes to above including early onset stroke/aneurysm. Sources: Literature |
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| Vascular Malformations_Germline v0.99 | ATR | Zornitza Stark Marked gene: ATR as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular Malformations_Germline v0.99 | ATR | Zornitza Stark Gene: atr has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular Malformations_Germline v0.99 | ATR |
Zornitza Stark gene: ATR was added gene: ATR was added to Vascular Malformations_Germline. Sources: Expert list Mode of inheritance for gene: ATR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ATR were set to 22341969 Phenotypes for gene: ATR were set to Cutaneous telangiectasia and cancer syndrome, familial, MIM# 614564 Review for gene: ATR was set to RED Added comment: Single multigenerational family reported. Sources: Expert list |
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| Vascular Malformations_Germline v0.69 | PTPN11 | Bryony Thompson changed review comment from: Comment on list classification: Paediatric gene that isn't suitable for testing of vascular malformations in an adult hospital; to: Comment on list classification: Paediatric gene that isn't suitable for testing of vascular malformations in an adult hospital | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular Malformations_Germline v0.37 | PTPN14 |
Bryony Thompson gene: PTPN14 was added gene: PTPN14 was added to Inherited Vascular Malformations. Sources: Expert list Mode of inheritance for gene: PTPN14 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PTPN14 were set to Choanal atresia and lymphedema 613611 Review for gene: PTPN14 was set to GREEN Added comment: Lymphedema is a prominent feature of the condition. Sources: Expert list |
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| Vascular Malformations_Germline v0.36 | PTPN11 | Bryony Thompson Added comment: Comment on list classification: Paediatric gene that isn't suitable for testing of vascular malformations in an adult hospital | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||