GMS Immunology specialist test group-Vasculitis and Inflammation-LNGLH
Gene: TGFB3EnsemblGeneIds (GRCh38): ENSG00000119699
EnsemblGeneIds (GRCh37): ENSG00000119699
OMIM: 190230, Gene2Phenotype
TGFB3 is in 11 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Initial gene list for Vasculitis and Inflammation panel (VIP Consensus Genes for Panels 17.12.18.xlsx) collated by Lucy Jenkins, NE Thames Regional Genetics Laboratory, Great Ormond Street Hospital for Children NHS Foundation Trust December 2018 on behalf of London North GLH for the GMS Immunology specialist test group. Gene Symbol submitted: TGFB3; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? not submitted; Mode of inheritance: not submitted; Phenotypes: none submitted; PMID(s): not submitted; Comment: PanelApp panel name indicated if gene already present in Panelapp: Thoracic aortic aneurysm or dissectionCreated: 27 Feb 2019, 3:14 p.m.
Lucy Jenkins (North Thames GMC & North East Thames Regional Genetics Service)
Gene rating submitted by Lucy Jenkins, NE Thames Regional Genetics Laboratory, Great Ormond Street Hospital for Children NHS Foundation Trust December 2018 on behalf of London North GLH for the GMS Immunology specialist test group.Created: 27 Feb 2019, 2:22 p.m.
Details
- Sources
-
- Expert Review Green
- NHS GMS
- London North GLH
- OMIM
- 190230
- Clinvar variants
- Variants in TGFB3
- Penetrance
- None
- Panels with this gene
-
- Pneumothorax - familial
- Paediatric or syndromic cardiomyopathy
- Thoracic aortic aneurysm or dissection (GMS)
- Intellectual disability
- Thoracic aortic aneurysm or dissection
- Clefting
- Fetal anomalies
- DDG2P
- Arthrogryposis
- Arrhythmogenic right ventricular cardiomyopathy
- Ehlers Danlos syndrome with a likely monogenic cause
History Filter Activity
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source Expert Review Green was added to TGFB3. Rating Changed from Red List (low evidence) to Green List (high evidence)
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to TGFB3.
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: TGFB3 was added gene: TGFB3 was added to GMS Immunology specialist test group-Vasculitis and Inflammation-LNGLH. Sources: London North GLH Mode of inheritance for gene: TGFB3 was set to