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

Intellectual disability syndromic and non-syndromic

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

Claire Fryer-Smith (University of Melbourne)

Green List (high evidence)

Intellectual disability is a known manifestation of Myhre syndrome, caused by pathogenic variants in SMAD4 (PMID: 9843046, 22243968, 7296942, 8261650).
Created: 14 Sep 2023, 11:44 p.m. | Last Modified: 14 Sep 2023, 11:44 p.m.
Panel Version: 0.5399

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome MIM#175050; Myhre syndrome MIM#139210; Pancreatic cancer, somatic MIM#260350; Polyposis, juvenile intestinal MIM#174900

Publications

History Filter Activity

16 Sep 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

16 Sep 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SMAD4 were changed from to Myhre syndrome MIM#139210

16 Sep 2023, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SMAD4 were set to

16 Sep 2023, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SMAD4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SMAD4 was added gene: SMAD4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SMAD4 was set to Unknown