DDG2P
Gene: SMAD4

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

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category for the disease Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, OMIM:175050 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, absent gene product and potential IF respectively.

The DDG2P confidence category for the disease MYHRE SYNDROME, OMIM:139210 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure.
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 6 Oct 2023, 5:21 p.m.

Panel Version: 3.29

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

Phenotypes
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, OMIM:175050; MYHRE SYNDROME, OMIM:139210

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 6 Oct 2023, 5:21 p.m.
Panel version: 3.12

Rebecca Foulger (Genomics England curator)

I don't know

Added 'watchlist' tag to highlight different G2P ratings for different disorders.
Created: 28 Nov 2019, 9:14 a.m. | Last Modified: 28 Nov 2019, 9:14 a.m.

Panel Version: 1.171

September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for JUVENILE POLYPOSIS SYNDROME; JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME.
Created: 8 Oct 2019, 3:24 p.m. | Last Modified: 8 Oct 2019, 3:24 p.m.

Panel Version: 1.131

Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp. SMAD4 also rated 'confirmed' for MYHRE SYNDROME.
Created: 12 Jul 2019, 9:15 p.m. | Last Modified: 12 Jul 2019, 9:15 p.m.

Panel Version: 1.76

Changed rating to Amber to reflect DDG2P Disease confidence of 'both DD and IF' for JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME; JUVENILE POLYPOSIS SYNDROME. SMAD4 also rated 'confirmed' for MYHRE SYNDROME.
Created: 29 Jan 2019, 12:14 p.m.

Multiple MOPs in DD-G2P download: activating, loss of function. Multiple ratings in DD-G2P download: Rated confirmed for MYHRE SYNDROME. Rated both DD and IF for JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME 175050 and JUVENILE POLYPOSIS SYNDROME 174900.
Created: 19 Nov 2018, 11:30 a.m.

Created: 19 Nov 2018, 11:30 a.m.

Panel version: 1.171

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Green
DD-Gene2Phenotype

Phenotypes

Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, OMIM:175050
MYHRE SYNDROME, OMIM:139210

OMIM

600993

Clinvar variants

Variants in SMAD4

Penetrance

None

Panels with this gene

History Filter Activity

6 Oct 2023, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: SMAD4 were changed from Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, OMIM:175050; MYHRE SYNDROME, OMIM:139210 to Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, OMIM:175050; MYHRE SYNDROME, OMIM:139210

6 Oct 2023, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: SMAD4 were changed from JUVENILE POLYPOSIS SYNDROME 174900; MYHRE SYNDROME 139210; JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME 175050 to Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, OMIM:175050; MYHRE SYNDROME, OMIM:139210

6 Oct 2023, Gel status: 3

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag watchlist was removed from gene: SMAD4.

28 Nov 2019, Gel status: 3