Incidentalome_PREGEN_DRAFT
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
1 review
Tony Roscioli (New South Wales Health Pathology)
Comment on list classification: may cause childhood onset diseaseCreated: 20 Jan 2021, 5:36 a.m. | Last Modified: 20 Jan 2021, 5:36 a.m.
Panel Version: 0.38
may cause childhood onset diseaseCreated: 20 Jan 2021, 5:36 a.m. | Last Modified: 20 Jan 2021, 5:36 a.m.
Panel Version: 0.37
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- NSW Health Pathology
- 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
20 Jan 2021, Gel status: 1
Entity classified by Genomics England curator
Tony Roscioli (New South Wales Health Pathology)Gene: smad3 has been classified as Red List (Low Evidence).
9 Nov 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: SMAD3 was added gene: SMAD3 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology Mode of inheritance for gene: SMAD3 was set to Unknown