Pneumothorax
Gene: SMAD3EnsemblGeneIds (GRCh38): ENSG00000166949
EnsemblGeneIds (GRCh37): ENSG00000166949
OMIM: 603109, Gene2Phenotype
SMAD3 is in 16 panels
2 reviews
Bryony Thompson (Royal Melbourne Hospital)
Comment on list classification: Included on this panel because spontaneous pneumothorax can be a feature of LDS.Created: 12 Dec 2024, 9:49 p.m. | Last Modified: 12 Dec 2024, 9:49 p.m.
Panel Version: 0.14
Sangavi Sivagnanasundram (Melbourne Health)
Pneumothorax is not a common feature of SMAD3-related LDS.
Variants have been reported in two unrelated individuals with pneumothorax as a presenting phenotype.Created: 29 Nov 2024, 12:06 a.m. | Last Modified: 29 Nov 2024, 12:06 a.m.
Panel Version: 0.11
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Loeys-Dietz syndrome 3 MIM#613795
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- NHS GMS
- Expert list
- Phenotypes
-
- Pulmonary emphysema, MONDO:0004849
- Loeys-Dietz syndrome type 3, OMIM:613795
- OMIM
- 603109
- Clinvar variants
- Variants in SMAD3
- Penetrance
- None
- 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
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: smad3 has been classified as Green List (High Evidence).
Set publications
Bryony Thompson (Royal Melbourne Hospital)Publications for gene: SMAD3 were set to 25006744; 26493799; 15591413; 23161884
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: smad3 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: SMAD3 was added gene: SMAD3 was added to Pneumothorax. Sources: Expert list,Expert Review Amber,NHS GMS Mode of inheritance for gene: SMAD3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SMAD3 were set to 25006744; 26493799; 15591413; 23161884 Phenotypes for gene: SMAD3 were set to Pulmonary emphysema, MONDO:0004849; Loeys-Dietz syndrome type 3, OMIM:613795