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| Hereditary haemorrhagic telangiectasia v2.10 | GDF2 | Sarah Leigh Added comment: Comment on publications: 23972370 - 3 unrelated probands with no variants identified in ENG, ACVRL1, and SMAD4;27081547 - a variant of unknown significance in GDF2 was detected in one of 93 unrelated individuals clinically suspected to have HHT who previously tested negative for mutations in ENG, ACVRL1 and SMAD4;25674101 - review from the same authors as PMID:23972370 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary haemorrhagic telangiectasia v2.10 | GDF2 | Sarah Leigh Publications for gene: GDF2 were set to 23972370 - 3 unrelated probands with no variants identified in ENG, ACVRL1, and SMAD4; 27081547 - a variant of unknown significance in GDF2 was detected in one of 93 unrelated individuals clinically suspected to have HHT who previously tested negative for mutations in ENG, ACVRL1 and SMAD4; 25674101 - review from the same authors as PMID:23972370; 32573726; 32669404; 33834622; https://doi.org/10.1164/ajrccm-conference.2020.201.1_MeetingAbstracts.A6356 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary haemorrhagic telangiectasia v2.8 | GDF2 | Arina Puzriakova Publications for gene: GDF2 were set to 23972370 - 3 unrelated probands with no variants identified in ENG, ACVRL1, and SMAD4; 27081547 - a variant of unknown significance in GDF2 was detected in one of 93 unrelated individuals clinically suspected to have HHT who previously tested negative for mutations in ENG, ACVRL1 and SMAD4; 25674101 - review from the same authors as PMID:23972370 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary haemorrhagic telangiectasia v1.51 | SMAD4 | Matthew Edwards reviewed gene: SMAD4: Rating: GREEN; Mode of pathogenicity: None; Publications: 16613914, 15031030, 22810475; Phenotypes: OMIM: 175050 Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary haemorrhagic telangiectasia v1.34 | SMAD4 |
Louise Daugherty Source NHS GMS was added to SMAD4. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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| Hereditary haemorrhagic telangiectasia v1.32 | SMAD4 | Louise Daugherty reviewed gene: SMAD4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary haemorrhagic telangiectasia | SMAD4 | Sarah Leigh marked SMAD4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary haemorrhagic telangiectasia | SMAD4 | Sarah Leigh commented on SMAD4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary haemorrhagic telangiectasia | SMAD4 | Claire Shovlin reviewed SMAD4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||