Clefting disorders
Gene: SMAD3
SMAD3 (SMAD family member 3)
EnsemblGeneIds (GRCh38): ENSG00000166949
EnsemblGeneIds (GRCh37): ENSG00000166949
OMIM: 603109, Gene2Phenotype
SMAD3 is in 16 panels
EnsemblGeneIds (GRCh38): ENSG00000166949
EnsemblGeneIds (GRCh37): ENSG00000166949
OMIM: 603109, Gene2Phenotype
SMAD3 is in 16 panels
0 reviews
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Phenotypes
-
- LOEYS-DIETZ SYNDROME 3
- LDS3
- OMIM
- 603109
- Clinvar variants
- Variants in SMAD3
- Penetrance
- None
- Panels with this gene
-
- Additional findings_Adult
- Clefting disorders
- Incidentalome_PREGEN_DRAFT
- BabyScreen+ newborn screening
- Bleeding and Platelet Disorders
- Transplant Co-Morbidity Superpanel
- Pneumothorax
- Craniosynostosis
- Incidentalome
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Congenital Heart Defect
- Arthrogryposis
- Aortopathy_Connective Tissue Disorders
- Spontaneous coronary artery dissection
History Filter Activity
16 Sep 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: SMAD3 was added gene: SMAD3 was added to Clefting_GEL. Sources: Expert Review Green Mode of inheritance for gene: SMAD3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SMAD3 were set to LOEYS-DIETZ SYNDROME 3; LDS3