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| Hereditary haemorrhagic telangiectasia v2.15 | GDF2 | Ivone Leong commented on gene: GDF2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary haemorrhagic telangiectasia v2.14 | GDF2 |
Ivone Leong Source Expert Review Green was added to GDF2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Hereditary haemorrhagic telangiectasia v2.11 | GDF2 | Eleanor Williams commented on gene: GDF2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary haemorrhagic telangiectasia v2.11 | GDF2 | Sarah Leigh Phenotypes for gene: GDF2 were changed from Telangiectasia, hereditary hemorrhagic, type 5 615506 to Telangiectasia, hereditary hemorrhagic, type 5 OMIM:615506; telangiectasia, hereditary hemorrhagic, type 5 MONDO:0014217 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary haemorrhagic telangiectasia v2.10 | GDF2 | Sarah Leigh edited their review of gene: GDF2: Added comment: PMID: 34904380 reports a novel GDF2 variant (c.1282T>C, p.C428R) in three members of family displaying hereditary hemorrhagic telangiectasia (HHT) and pulmonary arteriovenous malformations. Functional studies support the delaterious effect of the variant in the normal cleavage of BMP9 proprotein, leading to an >2.5-fold lower level of the active mature dimer in the plasma of variant-positive family members in comparison to controls and lower levels of mature BMP9 from in vitro expression studies. There is phenotypic variability between patients carrying the same variant in HHT, and this is pronounced in the three cases reported in PMID: 34904380; although all of the cases in this familiy meet the Curaçao Criteria, the two non-proband cases are regarded as mild.; Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 v2.9 | GDF2 | Arina Puzriakova Penetrance for gene GDF2 was set from to Complete | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 v2.7 | GDF2 | Arina Puzriakova reviewed gene: GDF2: Rating: ; Mode of pathogenicity: None; Publications: 27081547, 32573726, 32669404, 33834622, https://doi.org/10.1164/ajrccm-conference.2020.201.1_MeetingAbstracts.A6356; Phenotypes: Telangiectasia, hereditary hemorrhagic, type 5, OMIM:615506; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary haemorrhagic telangiectasia v1.51 | GDF2 | Matthew Edwards reviewed gene: GDF2: Rating: AMBER; Mode of pathogenicity: None; Publications: 23972370, 25674101; Phenotypes: OMIM: 615506 Telangiectasia, hereditary hemorrhagic, type 5; Mode of inheritance: None; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary haemorrhagic telangiectasia v1.37 | GDF2 | Louise Daugherty edited their review of gene: GDF2: Added comment: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019 : classified amber on basis of 3 cases (see review); Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary haemorrhagic telangiectasia v1.34 | GDF2 | Louise Daugherty Source NHS GMS was added to GDF2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary haemorrhagic telangiectasia v1.32 | GDF2 | Louise Daugherty reviewed gene: GDF2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary haemorrhagic telangiectasia | GDF2 | Ellen McDonagh classified GDF2 as amber | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary haemorrhagic telangiectasia | GDF2 | Ellen McDonagh classified GDF2 as amber | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary haemorrhagic telangiectasia | GDF2 | Ellen McDonagh commented on GDF2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary haemorrhagic telangiectasia | GDF2 | Sarah Leigh marked GDF2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary haemorrhagic telangiectasia | GDF2 | Sarah Leigh commented on GDF2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary haemorrhagic telangiectasia | GDF2 | Sarah Leigh classified GDF2 as red | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary haemorrhagic telangiectasia | GDF2 | Claire Shovlin reviewed GDF2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||