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| Cerebral vascular malformations v0.18 | PDGFRB |
Natasha Brown gene: PDGFRB was added gene: PDGFRB was added to Cerebral vascular malformations. Sources: Literature Mode of inheritance for gene: PDGFRB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 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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| Cerebral vascular malformations v0.0 | CRB1 |
Zornitza Stark gene: CRB1 was added gene: CRB1 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: CRB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CRB1 were set to Pigmented Paravenous Chorioretinal Atrophy |
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| Cerebral vascular malformations v0.0 | ATR |
Zornitza Stark gene: ATR was added gene: ATR was added to Cerebral vascular malformations. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: ATR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATR were set to 12640452 Phenotypes for gene: ATR were set to Seckel syndrome 1 210600 |
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