Cerebral vascular malformations
Gene: SMAD4

SMAD4 (SMAD family member 4)
EnsemblGeneIds (GRCh38): ENSG00000141646
EnsemblGeneIds (GRCh37): ENSG00000141646
OMIM: 600993, Gene2Phenotype
SMAD4 is in 23 panels

1 review

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Classified as Definitive by ClinGen Hemostasis Thrombosis GCEP on 18/4/2023 - https://search.clinicalgenome.org/CCID:006217
Created: 18 Nov 2024, 3:24 a.m. | Last Modified: 18 Nov 2024, 3:24 a.m.

Panel Version: 0.39

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome MONDO:0008278

Publications

20301525

Created: 18 Nov 2024, 3:24 a.m.
Last Modified: 18 Nov 2024, 3:24 a.m.
Panel version: 0.39

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Genomics England PanelApp
Expert Review Green

Phenotypes

Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 175050

OMIM

600993

Clinvar variants

Variants in SMAD4

Penetrance

None

Panels with this gene

History Filter Activity

18 May 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SMAD4 was added gene: SMAD4 was added to Cerebral vascular malformations. Sources: Expert Review Green,Genomics England PanelApp 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

Cerebral vascular malformations Gene: SMAD4