Skeletal Dysplasia_Fetal
Gene: SMAD4EnsemblGeneIds (GRCh38): ENSG00000141646
EnsemblGeneIds (GRCh37): ENSG00000141646
OMIM: 600993, Gene2Phenotype
SMAD4 is in 23 panels
1 review
Krithika Murali (Victorian Clinical Genetics Services)
Myhre syndrome (variants involving codons 496 and 500) can be associated with IUGR and short long bones
Sources: Expert list, LiteratureCreated: 27 Sep 2022, 3:49 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Myhre syndrome - OMIM#139210; MONDO:0007688
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Literature
- Expert list
- Phenotypes
-
- Myhre syndrome - OMIM#139210
- MONDO:0007688
- OMIM
- 600993
- Clinvar variants
- Variants in SMAD4
- Penetrance
- None
- Publications
- 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
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: smad4 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: smad4 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Krithika Murali (Victorian Clinical Genetics Services)gene: SMAD4 was added gene: SMAD4 was added to Skeletal Dysplasia_Fetal. Sources: Expert list,Literature Mode of inheritance for gene: SMAD4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SMAD4 were set to 28406602 Phenotypes for gene: SMAD4 were set to Myhre syndrome - OMIM#139210; MONDO:0007688 Review for gene: SMAD4 was set to GREEN