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  3. SMAD2
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Spontaneous coronary artery dissection

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

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 32897753
3x individuals with SCAD, all missense and absent/1 het in gnomad v4

PMID: 30448172
1x individual with a missense, absent in gnomad v4

Sources: Literature
Created: 27 Jun 2024, 10:58 p.m. | Last Modified: 7 Aug 2024, 6:02 a.m.
Panel Version: 0.38

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Loeys-Dietz syndrome 6, MIM# 619656

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 27 Jun 2024, 10:58 p.m.
Last Modified: 7 Aug 2024, 6:02 a.m.
Panel version: 0.38

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Loeys-Dietz syndrome 6, MIM# 619656
OMIM
601366
Clinvar variants
Variants in SMAD2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

7 Aug 2024, Gel status: 3

Set publications

Ain Roesley (Victorian Clinical Genetics Services)

Publications for gene: SMAD2 were set to 29967133

27 Jun 2024, Gel status: 3

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

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

27 Jun 2024, Gel status: 3

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

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

27 Jun 2024, Gel status: 1

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

Ain Roesley (Victorian Clinical Genetics Services)

gene: SMAD2 was added gene: SMAD2 was added to Spontaneous coronary artery dissection. Sources: Literature Mode of inheritance for gene: SMAD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SMAD2 were set to 29967133 Phenotypes for gene: SMAD2 were set to Loeys-Dietz syndrome 6, MIM# 619656 Penetrance for gene: SMAD2 were set to Complete Review for gene: SMAD2 was set to GREEN gene: SMAD2 was marked as current diagnostic