This Panel is marked as Deleted
GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: SMAD3
SMAD3 (SMAD family member 3)
EnsemblGeneIds (GRCh38): ENSG00000166949
EnsemblGeneIds (GRCh37): ENSG00000166949
OMIM: 603109, Gene2Phenotype
SMAD3 is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000166949
EnsemblGeneIds (GRCh37): ENSG00000166949
OMIM: 603109, Gene2Phenotype
SMAD3 is in 13 panels
1 review
Tracy Lester (Genetics laboratory, Oxford UK)
Overgrowth (tall stature) syndromes with skeletal involvement. >3 cases; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:52 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Loeys-Dietz syndrome 3 613795
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Loeys-Dietz syndrome 3 613795
- OMIM
- 603109
- Clinvar variants
- Variants in SMAD3
- Penetrance
- None
- Panels with this gene
-
- Thoracic aortic aneurysm or dissection (GMS)
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Intellectual disability
- Thoracic aortic aneurysm or dissection
- COVID-19 research
- Clefting
- Fetal anomalies
- DDG2P
- Skeletal dysplasia
- Cerebral vascular malformations
- Arthrogryposis
- Ehlers Danlos syndrome with a likely monogenic cause
- Pneumothorax - familial
History Filter Activity
6 Mar 2019, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: SMAD3 was added gene: SMAD3 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: SMAD3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SMAD3 were set to Loeys-Dietz syndrome 3 613795