Skeletal dysplasia
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
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Well established gene-disease associations.
Variants causing Myhre syndrome are at position Ile500.Created: 20 Mar 2022, 2:27 a.m. | Last Modified: 20 Mar 2022, 2:27 a.m.
Panel Version: 0.11633
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Juvenile polyposis/hereditary haemorrhagic telangiectasia syndrome, MIM# 175050; Polyposis, juvenile intestinal, MIM# 174900; Myhre syndrome, MIM# 139210
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert Review Green
- NHS GMS
- Victorian Clinical Genetics Services
- Phenotypes
-
- Myhre syndrome 139210
- Myhre syndrome 139210
- 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
17 Dec 2019, 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 Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: SMAD4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SMAD4 were set to Myhre syndrome 139210; Myhre syndrome 139210