Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Fetal anomalies

Gene: SMAD4

Green List (high evidence)

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

1 review

Seb Lunke (Victorian Clinical Genetics Services)

Green List (high evidence)

Well established gene disease association with microcephaly, characteristic skeletal dysplasia, facial anomalies, congenital heart defect
Created: 12 Jan 2022, 11:08 p.m. | Last Modified: 12 Jan 2022, 11:08 p.m.
Panel Version: 0.1969

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Myhre syndrome, OMIM#139210, MONDO:0007688

History Filter Activity

12 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

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

12 Jan 2022, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Phenotypes for gene: SMAD4 were changed from JUVENILE POLYPOSIS SYNDROME; MYHRE SYNDROME; JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME to Myhre syndrome, OMIM#139210, MONDO:0007688

24 Oct 2021, 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 Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: SMAD4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SMAD4 were set to JUVENILE POLYPOSIS SYNDROME; MYHRE SYNDROME; JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME