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Newborns main panel

Gene: SMAD4

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

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
SMAD4 curation results (clinicalgenome.org)
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.135
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

History Filter Activity

14 Sep 2023, Gel status: 1

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Polyposis, juvenile intestinal for gene: SMAD4

5 Jul 2023, Gel status: 1

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Polyposis, juvenile intestinal for gene: SMAD4

6 Jun 2023, Gel status: 1

Set mode of pathogenicity

Mafalda Gomes (Genomics England Curator)

Mode of pathogenicity for gene: SMAD4 was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments to None

31 May 2023, Gel status: 1

Removed Tag

Mafalda Gomes (Genomics England Curator)

Tag GOF was removed from gene: SMAD4.

31 May 2023, Gel status: 1

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Red was added to SMAD4. Added phenotypes Polyposis, juvenile intestinal for gene: SMAD4 Rating Changed from No List (delete) to Red List (low evidence)

9 Mar 2023, Gel status: 0

Set mode of pathogenicity

Mafalda Gomes (Genomics England Curator)

Mode of pathogenicity for gene: SMAD4 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

9 Mar 2023, Gel status: 0

Added Tag

Mafalda Gomes (Genomics England Curator)

Tag GOF tag was added to gene: SMAD4.

9 Mar 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: SMAD4 was added gene: SMAD4 was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: SMAD4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown