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Bleeding and platelet disorders v0.72 SMAD4 Louise Daugherty changed review comment from: 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; to: 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
Bleeding and platelet disorders v0.72 SMAD4 Louise Daugherty Classified gene: SMAD4 as Amber List (moderate evidence)
Bleeding and platelet disorders v0.72 SMAD4 Louise Daugherty Added comment: 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.
Bleeding and platelet disorders v0.72 SMAD4 Louise Daugherty Gene: smad4 has been classified as Amber List (Moderate Evidence).
Bleeding and platelet disorders v0.71 SMAD4 Louise Daugherty commented on gene: SMAD4: 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
Bleeding and platelet disorders v0.63 SMAD4 Louise Daugherty Phenotypes for gene: SMAD4 were changed from (NO OMIM NUMBER); hereditary hemorrhagic telangiectasia syndrome to hereditary hemorrhagic telangiectasia syndrome
Bleeding and platelet disorders v0.62 SMAD4 Louise Daugherty Classified gene: SMAD4 as Red List (low evidence)
Bleeding and platelet disorders v0.62 SMAD4 Louise Daugherty Added comment: 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).
Bleeding and platelet disorders v0.62 SMAD4 Louise Daugherty Gene: smad4 has been classified as Red List (Low Evidence).
Bleeding and platelet disorders v0.56 SMAD4 Louise Daugherty commented on gene: SMAD4: 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
Bleeding and platelet disorders v0.53 SMAD4 PATRICIA BIGNELL reviewed gene: SMAD4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 SMAD4 Louise Daugherty reviewed gene: SMAD4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.5 SMAD4 Carl Fratter reviewed gene: SMAD4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.4 SMAD4 Louise Daugherty Source NHS GMS was added to SMAD4.
Bleeding and platelet disorders v0.3 SMAD4 Louise Daugherty 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)
Bleeding and platelet disorders v0.2 SMAD4 Louise Daugherty 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