Inherited bleeding disorders

Gene: SMAD4

Green List (high evidence)

SMAD4 (SMAD family member 4)
EnsemblGeneIds (GRCh38): ENSG00000141646
EnsemblGeneIds (GRCh37): ENSG00000141646
OMIM: 600993, Gene2Phenotype
SMAD4 is in 25 panels

1 review

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Comment on list classification: New gene from NIHRRD-BR BRIDGE Bleeding and Platelet Disorders project, enough evidence to support gene-disease association and relevance to this panel to rate this gene Green.
Created: 20 Sep 2018, 5 p.m.
New bleeding, platelet, coagulation and thrombotic disorder Tier 1 reportable gene from NIHRRD-BR BRIDGE project, announced at ISTH-SSC meeting Dublin 2018.
Sources: Expert list
Created: 20 Sep 2018, 4:22 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050; Bleeding disorder

History Filter Activity

20 Sep 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: smad4 has been classified as Green List (High Evidence).

20 Sep 2018, Gel status: 1

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

Louise Daugherty (Genomics England Curator)

gene: SMAD4 was added gene: SMAD4 was added to Inherited bleeding disorders. Sources: Expert list Mode of inheritance for gene: SMAD4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SMAD4 were set to Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050; Bleeding disorder Review for gene: SMAD4 was set to GREEN