Spontaneous coronary artery dissection
Gene: TGFBR1EnsemblGeneIds (GRCh38): ENSG00000106799
EnsemblGeneIds (GRCh37): ENSG00000106799
OMIM: 190181, Gene2Phenotype
TGFBR1 is in 19 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Well established association with connective tissue disease, hence associations with SCA plausible but as noted the variants reported to date are not clearly disease-causing.Created: 13 Aug 2024, 2:03 a.m. | Last Modified: 13 Aug 2024, 2:03 a.m.
Panel Version: 0.51
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Loeys-Dietz syndrome 1, MIM# 609192
Ain Roesley (Victorian Clinical Genetics Services)
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 diagnosisCreated: 27 Jun 2024, 11:12 p.m. | Last Modified: 7 Aug 2024, 11:53 p.m.
Panel Version: 0.41
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Loeys-Dietz syndrome 1 MIM#609192
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Loeys-Dietz syndrome 1 MIM#609192
- OMIM
- 190181
- Clinvar variants
- Variants in TGFBR1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Combined Immunodeficiency
- Additional findings_Adult
- Clefting disorders
- Incidentalome_PREGEN_DRAFT
- Inflammatory bowel disease
- BabyScreen+ newborn screening
- Vasculitis
- Intellectual disability syndromic and non-syndromic
- Bleeding and Platelet Disorders
- Transplant Co-Morbidity Superpanel
- Pneumothorax
- Craniosynostosis
- Incidentalome
- Fetal anomalies
- Additional findings_Paediatric
- Congenital Heart Defect
- Arthrogryposis
- Aortopathy_Connective Tissue Disorders
- Spontaneous coronary artery dissection
History Filter Activity
Set publications
Ain Roesley (Victorian Clinical Genetics Services)Publications for gene: TGFBR1 were set to 36584339; 30071989; 27879313
Entity classified by Genomics England curator
Ain Roesley (Victorian Clinical Genetics Services)Gene: tgfbr1 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Ain Roesley (Victorian Clinical Genetics Services)Gene: tgfbr1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Ain Roesley (Victorian Clinical Genetics Services)Gene: tgfbr1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ain Roesley (Victorian Clinical Genetics Services)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