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Clefting

Gene: SMAD2

Red List (low evidence)

SMAD2 (SMAD family member 2)
EnsemblGeneIds (GRCh38): ENSG00000175387
EnsemblGeneIds (GRCh37): ENSG00000175387
OMIM: 601366, Gene2Phenotype
SMAD2 is in 8 panels

1 review

Anna de Burca (Genomics England Curator)

I don't know

Variants in this gene have recently been associated with Loeys-Dietz syndrome. Since only a small number of cases have been described to date, further work is required to determine whether individuals with variants in SMAD2 commonly present with the craniofacial features associated with this condition.
Sources: Literature
Created: 12 Sep 2018, 12:46 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
Phenotypes
  • Loeys-Dietz syndrome
OMIM
601366
Clinvar variants
Variants in SMAD2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Sep 2018, Gel status: 1

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

Anna de Burca (Genomics England Curator)

gene: SMAD2 was added gene: SMAD2 was added to Clefting. 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; 29392890 Phenotypes for gene: SMAD2 were set to Loeys-Dietz syndrome Review for gene: SMAD2 was set to AMBER