Arthrogryposis
Gene: TGFB3EnsemblGeneIds (GRCh38): ENSG00000119699
EnsemblGeneIds (GRCh37): ENSG00000119699
OMIM: 190230, Gene2Phenotype
TGFB3 is in 11 panels
1 review
Alice Gardham (Genomics England)
Recognised on G2PCreated: 5 Jan 2017, 11:22 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Loeys-Dietz syndrome 5 615582
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Loeys-Dietz syndrome 5 615582
- OMIM
- 190230
- Clinvar variants
- Variants in TGFB3
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Thoracic aortic aneurysm or dissection (GMS)
- DDG2P
- Thoracic aortic aneurysm or dissection
- Arthrogryposis
- Paediatric or syndromic cardiomyopathy
- Intellectual disability
- Ehlers Danlos syndrome with a likely monogenic cause
- Fetal anomalies
- Clefting
- Arrhythmogenic right ventricular cardiomyopathy
- Pneumothorax - familial
History Filter Activity
panel promoted to version 2
Ellen McDonagh (Genomics England Curator)16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Added New Source
Alice Gardham (Genomics England)TGFB3 was added to Arthrogryposispanel. Sources: Literature
Created
Alice Gardham (Genomics England)TGFB3 was created by agardham