Clefting disorders
Gene: SMAD4
SMAD4 (SMAD family member 4)
EnsemblGeneIds (GRCh38): ENSG00000141646
EnsemblGeneIds (GRCh37): ENSG00000141646
OMIM: 600993, Gene2Phenotype
SMAD4 is in 23 panels
EnsemblGeneIds (GRCh38): ENSG00000141646
EnsemblGeneIds (GRCh37): ENSG00000141646
OMIM: 600993, Gene2Phenotype
SMAD4 is in 23 panels
0 reviews
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Phenotypes
-
- MYHRE SYNDROME
- MYHRS
- 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
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: SMAD4 was added gene: SMAD4 was added to Clefting_GEL. Sources: Expert Review Green Mode of inheritance for gene: SMAD4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SMAD4 were set to MYHRE SYNDROME; MYHRS