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| Spontaneous coronary artery dissection v0.51 | TGFBR1 | Zornitza Stark reviewed gene: TGFBR1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Loeys-Dietz syndrome 1, MIM# 609192; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Spontaneous coronary artery dissection v0.43 | TGFBR1 | Ain Roesley Publications for gene: TGFBR1 were set to 36584339; 30071989; 27879313 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Spontaneous coronary artery dissection v0.42 | TGFBR1 | Ain Roesley Classified gene: TGFBR1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Spontaneous coronary artery dissection v0.42 | TGFBR1 | Ain Roesley Gene: tgfbr1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Spontaneous coronary artery dissection v0.41 | TGFBR1 | Ain Roesley edited their review of gene: TGFBR1: Changed rating: AMBER; Changed publications: 35092149, 36103205; Changed phenotypes: Loeys-Dietz syndrome 1 MIM#609192 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Spontaneous coronary artery dissection v0.41 | TGFBR1 |
Ain Roesley changed review comment from: "Definitive" by ClinGen Aortopathy working group. Reviewed in PMID 27879313 (176 cases with variants in TGFBR1). AMBER for AR disease: PMID 36584339 Biallelic variants reported in a single family with two sibs. Presented with severe dilatation of aorta, diaphragmatic hernia, skin translucency, and profound joint laxity at birth Sources: Radboud University Medical Center, Nijmegen; to: PMID: 35092149 1x individual with SCAD, the missense has 3 hets in gnomad v4 PMID: 36103205 1x individual with R-SCAD and fhx, however the missense has 60 hets in gnomad v4 Amber so as to not miss a diagnosis |
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| Spontaneous coronary artery dissection v0.10 | TGFBR1 | Ain Roesley Marked gene: TGFBR1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Spontaneous coronary artery dissection v0.10 | TGFBR1 | Ain Roesley Gene: tgfbr1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Spontaneous coronary artery dissection v0.10 | TGFBR1 | Ain Roesley Classified gene: TGFBR1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Spontaneous coronary artery dissection v0.10 | TGFBR1 | Ain Roesley Gene: tgfbr1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Spontaneous coronary artery dissection v0.9 | TGFBR1 |
Ain Roesley gene: TGFBR1 was added gene: TGFBR1 was added to Spontaneous coronary artery dissection. Sources: Radboud University Medical Center, Nijmegen Mode of inheritance for gene: TGFBR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TGFBR1 were set to 36584339; 30071989; 27879313 Phenotypes for gene: TGFBR1 were set to Loeys-Dietz syndrome 1 MIM#609192 Review for gene: TGFBR1 was set to GREEN gene: TGFBR1 was marked as current diagnostic Added comment: "Definitive" by ClinGen Aortopathy working group. Reviewed in PMID 27879313 (176 cases with variants in TGFBR1). AMBER for AR disease: PMID 36584339 Biallelic variants reported in a single family with two sibs. Presented with severe dilatation of aorta, diaphragmatic hernia, skin translucency, and profound joint laxity at birth Sources: Radboud University Medical Center, Nijmegen |
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