1. Panels
  2. Pneumothorax
  3. SMAD2
STRs in panel
Prev Next
Regions in panel
Prev Next

Pneumothorax

Gene: SMAD2

Green List (high evidence)
SMAD2 (SMAD family member 2)
EnsemblGeneIds (GRCh38): ENSG00000175387
EnsemblGeneIds (GRCh37): ENSG00000175387
OMIM: 601366, Gene2Phenotype
SMAD2 is in 8 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, 9:47 p.m. | Last Modified: 12 Dec 2024, 9:47 p.m.
Panel Version: 0.12
Created: 12 Dec 2024, 9:47 p.m.
Last Modified: 12 Dec 2024, 9:47 p.m.
Panel version: 0.12

Sangavi Sivagnanasundram (Melbourne Health)

Red List (low evidence)

Pneumothorax is not a common feature of SMAD2-related LDS.

Spontaneous pneumothorax was reported in one individual presenting with a fusiform aneurysm on the left vertebral artery. A rare missense variant was identified in SMAD2 [p.(Leu449Ser)].
Created: 28 Nov 2024, 11:39 p.m. | Last Modified: 28 Nov 2024, 11:39 p.m.
Panel Version: 0.11

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Loeys-Dietz syndrome 6 MONDO:0030500

Publications

Created: 28 Nov 2024, 11:39 p.m.
Last Modified: 28 Nov 2024, 11:39 p.m.
Panel version: 0.11

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Loeys-Dietz syndrome,MONDO:0018954
OMIM
601366
Clinvar variants
Variants in SMAD2
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

12 Dec 2024, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: SMAD2 were set to 29392890; 26247899; 29707331

12 Dec 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: smad2 has been classified as Green List (High Evidence).

27 Oct 2022, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity

Bryony Thompson (Royal Melbourne Hospital)

gene: SMAD2 was added gene: SMAD2 was added to Pneumothorax. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: SMAD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SMAD2 were set to 29392890; 26247899; 29707331 Phenotypes for gene: SMAD2 were set to Loeys-Dietz syndrome,MONDO:0018954 Mode of pathogenicity for gene: SMAD2 was set to Other