Bleeding and platelet disorders

Gene: SMAD4

Amber List (moderate evidence)

SMAD4 (SMAD family member 4)
EnsemblGeneIds (GRCh38): ENSG00000141646
EnsemblGeneIds (GRCh37): ENSG00000141646
OMIM: 600993, Gene2Phenotype
SMAD4 is in 25 panels

3 reviews

PATRICIA BIGNELL (Oxford Hospitals NHS Foundation Trust)

Red List (low evidence)

Louise Daugherty (Genomics England Curator)

I don't know

Comment on list classification: Upgraded rating from Red to Amber. As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. All agreed that there is only enough evidence to rate this gene Amber.
Created: 22 Jul 2019, 10:58 a.m. | Last Modified: 22 Jul 2019, 10:58 a.m.
Panel Version: 0.72
GLH reviews since webex on 8th March 2019:
YNEGLH: Associated with a few syndromes all with cardiac problems- bleeding not mentioned in omim occasionally anaemia- RED
WWMGLH: SMAD 4 IS 1 OF THE GENES FOR HHT AMBER
NWGLH: categorise as AMBER
LSGLH: no association with bleeding phenotype – RED
Created: 22 Jul 2019, 10:57 a.m. | Last Modified: 22 Jul 2019, 10:58 a.m.
Panel Version: 0.72
Comment on list classification: Demoted from Green to Red. Initial Green gene submitted by one GLH (Carl Fratter Wessex and the West Midlands GLH), subsequently after the GMS Haematology Specialist Test Group webex call 8th March 2019 Patricia Bignell (Wessex and the West Midlands GLH) reviewed gene again and suggested downgrading to Red (webex 8.03.19 WWMGLH comments v1.doc).
Created: 28 May 2019, 3:53 p.m.
Follow up email correspondence with Patricia Bignell 13th March (webex 8.03.19 WWMGLH comments v1.doc), on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group, suggested rating Red
Created: 28 May 2019, 2:08 p.m.
Initial gene list (Consensus Genes for Panels 17.12.18_Haem_WWMGLH_v3.xlxs) collated by Carl Fratter Oxford Medical Genetics Laboratories January 2019 on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SMAD4; Suggested intial gene rating: Green List (high evidence); Are variants in this gene as part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: hereditary hemorrhagic telangiectasia syndrome; (NO OMIM NUMBER); PMID(s): 24001356; 25269631; 16613914; 30251589
Created: 5 Feb 2019, 1:26 p.m.

Carl Fratter (Oxford University Hospitals NHS Trust)

Green List (high evidence)

Gene rating submitted by Carl Fratter Oxford Medical Genetics Laboratories January 2019 on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group.
Created: 5 Feb 2019, 11:19 a.m.

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

22 Jul 2019, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: smad4 has been classified as Amber List (Moderate Evidence).

28 May 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: SMAD4 were changed from (NO OMIM NUMBER); hereditary hemorrhagic telangiectasia syndrome to hereditary hemorrhagic telangiectasia syndrome

28 May 2019, Gel status: 1

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: smad4 has been classified as Red List (Low Evidence).

5 Feb 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to SMAD4.

5 Feb 2019, Gel status: 3

Added New Source, Set mode of inheritance, Set Phenotypes, Set publications, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to SMAD4. Mode of inheritance for gene SMAD4 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes (NO OMIM NUMBER); hereditary hemorrhagic telangiectasia syndrome for gene: SMAD4 Publications for gene SMAD4 were changed from to 25269631; 24001356; 30251589; 16613914 Rating Changed from Red List (low evidence) to Green List (high evidence)

5 Feb 2019, 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 Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: SMAD4 was set to