Incidentalome_PREGEN_DRAFT
Gene: SMAD4EnsemblGeneIds (GRCh38): ENSG00000141646
EnsemblGeneIds (GRCh37): ENSG00000141646
OMIM: 600993, Gene2Phenotype
SMAD4 is in 23 panels
1 review
Tony Roscioli (New South Wales Health Pathology)
Comment on list classification: May cause Myhre syndrome but also adult cancer - needs discussionCreated: 20 Jan 2021, 5:35 a.m. | Last Modified: 20 Jan 2021, 5:35 a.m.
Panel Version: 0.37
May cause Myrhe syndrome but also adult cancer - requires discussionCreated: 20 Jan 2021, 5:34 a.m. | Last Modified: 20 Jan 2021, 5:34 a.m.
Panel Version: 0.36
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Amber
- NSW Health Pathology
- OMIM
- 600993
- Clinvar variants
- Variants in SMAD4
- Penetrance
- None
- Panels with this gene
-
- Stroke
- Additional findings_Adult
- Clefting disorders
- Hereditary Haemorrhagic Telangiectasia
- Incidentalome_PREGEN_DRAFT
- BabyScreen+ newborn screening
- Pulmonary Arterial Hypertension
- Intellectual disability syndromic and non-syndromic
- Bleeding and Platelet Disorders
- Transplant Co-Morbidity Superpanel
- Colorectal Cancer and Polyposis
- Cancer Predisposition_Paediatric
- Hand and foot malformations
- Vascular Malformations_Germline
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Skeletal Dysplasia_Fetal
- Congenital Heart Defect
- Arthrogryposis
- Mendeliome
- Aortopathy_Connective Tissue Disorders
- Cerebral vascular malformations
History Filter Activity
Entity classified by Genomics England curator
Tony Roscioli (New South Wales Health Pathology)Gene: smad4 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: SMAD4 was added gene: SMAD4 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology Mode of inheritance for gene: SMAD4 was set to Unknown