Craniosynostosis
Gene: SMAD3EnsemblGeneIds (GRCh38): ENSG00000166949
EnsemblGeneIds (GRCh37): ENSG00000166949
OMIM: 603109, Gene2Phenotype
SMAD3 is in 16 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Loeys-Dietz syndrome 3, MIM# 613795
Publications
Tiong Tan (Victorian Clinical Genetics Services)
Craniosynostosis is a well-established feature of LDS - TGFBR1, TGFBR2 and SMAD3
Sources: LiteratureCreated: 17 Jun 2020, 1:27 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
LOEYS-DIETZ SYNDROME
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Loeys-Dietz syndrome 3, MIM# 613795
- OMIM
- 603109
- Clinvar variants
- Variants in SMAD3
- Penetrance
- Complete
- Publications
- 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
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: SMAD3 were changed from LOEYS-DIETZ SYNDROME to Loeys-Dietz syndrome 3, MIM# 613795
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: SMAD3 were set to 20301312
Entity classified by Genomics England curator
Tiong Tan (Victorian Clinical Genetics Services)Gene: smad3 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Tiong Tan (Victorian Clinical Genetics Services)Gene: smad3 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Tiong Tan (Victorian Clinical Genetics Services)gene: SMAD3 was added gene: SMAD3 was added to Craniosynostosis. Sources: Literature Mode of inheritance for gene: SMAD3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SMAD3 were set to 20301312 Phenotypes for gene: SMAD3 were set to LOEYS-DIETZ SYNDROME Penetrance for gene: SMAD3 were set to Complete