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Research panel - Severe Paediatric Disorders

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

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: SMAD4; Recommended initial gene rating: Green List (high evidence); Phenotypes: Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050 (3) | Myhre syndrome, 139210 (3) | Polyposis, juvenile intestinal, 174900 (3); Mode of inheritance: Autosomal dominant | Autosomal dominant | Autosomal dominant
Created: 20 Feb 2020, 5:25 p.m. | Last Modified: 20 Feb 2020, 5:25 p.m.
Panel Version: 0.12
Created: 20 Feb 2020, 5:25 p.m.
Last Modified: 20 Feb 2020, 5:25 p.m.
Panel version: 0.12

History Filter Activity

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene SMAD4 were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050; Polyposis, juvenile intestinal, 174900; Myhre syndrome, 139210 for gene: SMAD4

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050; Polyposis, juvenile intestinal, 174900; Myhre syndrome, 139210 for gene: SMAD4

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050; Polyposis, juvenile intestinal, 174900; Myhre syndrome, 139210 for gene: SMAD4

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Polyposis, juvenile intestinal, 174900; Myhre syndrome, 139210; Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050 for gene: SMAD4

19 Feb 2020, Gel status: 3

Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene SMAD4 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050; Polyposis, juvenile intestinal, 174900; Myhre syndrome, 139210 for gene: SMAD4

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to SMAD4.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to SMAD4. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: SMAD4 was added gene: SMAD4 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: SMAD4 was set to