Clefting
Gene: TGFB3
TGFB3 (transforming growth factor beta 3)
EnsemblGeneIds (GRCh38): ENSG00000119699
EnsemblGeneIds (GRCh37): ENSG00000119699
OMIM: 190230, Gene2Phenotype
TGFB3 is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000119699
EnsemblGeneIds (GRCh37): ENSG00000119699
OMIM: 190230, Gene2Phenotype
TGFB3 is in 11 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
PMID: 28364787 - polymorphism reported as a risk factor in for Non-syndromic cleft palate only in Indonesian patients.Created: 14 Aug 2017, 3:08 p.m.
Phenotypes
Non-syndromic cleft palate only (NS CPO)
Publications
Helen Brittain (Genomics England Curator)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
LOEYS-DIETZ SYNDROME 5; LDS5
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Phenotypes
-
- LOEYS-DIETZ SYNDROME 5
- LDS5
- OMIM
- 190230
- Clinvar variants
- Variants in TGFB3
- Penetrance
- Complete
- 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
31 May 2017, Gel status: 4
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017
26 May 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)TGFB3 was created by ellenmcdonagh
26 May 2017, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)TGFB3 was added to Cleftingpanel. Sources: Expert Review Green