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| Hereditary haemorrhagic telangiectasia v3.2 | EPHB4 | Arina Puzriakova Phenotypes for gene: EPHB4 were changed from Capillary malformation-arteriovenous malformation 2, 618196; Capillary malformation, epistaxis, telangiectasia, cerebral AVM to Capillary malformation-arteriovenous malformation 2, OMIM:618196; Capillary malformation, epistaxis, telangiectasia, cerebral AVM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary haemorrhagic telangiectasia v1.51 | EPHB4 | Matthew Edwards reviewed gene: EPHB4: Rating: GREEN; Mode of pathogenicity: None; Publications: 28687708, 29444212, 30760892; Phenotypes: OMIM: 618196 Capillary malformation-arteriovenous malformation 2, 617300 Lymphatic malformation 7; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary haemorrhagic telangiectasia v1.50 | EPHB4 | Louise Daugherty Phenotypes for gene: EPHB4 were changed from Capillary malformation-arteriovenous malformation 2; 618196; Capillary malformation, epistaxis, telangiectasia, cerebral AVM to Capillary malformation-arteriovenous malformation 2, 618196; Capillary malformation, epistaxis, telangiectasia, cerebral AVM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary haemorrhagic telangiectasia v1.49 | EPHB4 | Louise Daugherty Classified gene: EPHB4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary haemorrhagic telangiectasia v1.49 | EPHB4 | Louise Daugherty Added comment: Comment on list classification: Changed from Amber to Green. Appropriate phenotype, sufficient cases and external expert review all support gene-disease association and relevance to this panel to rate gene as Green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary haemorrhagic telangiectasia v1.49 | EPHB4 | Louise Daugherty Gene: ephb4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary haemorrhagic telangiectasia v1.48 | EPHB4 | Louise Daugherty Phenotypes for gene: EPHB4 were changed from Capillary malformation-arteriovenous malformation 2; 618196; capillary malformation, epistaxis, telangiectasia, cerebral AVM to Capillary malformation-arteriovenous malformation 2; 618196; Capillary malformation, epistaxis, telangiectasia, cerebral AVM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary haemorrhagic telangiectasia v1.47 | EPHB4 | Louise Daugherty Added comment: Comment on phenotypes: Added phenotypes suggested from expert review that indicate relevance to inclusion on the Hereditary haemorrhagic telangiectasia panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary haemorrhagic telangiectasia v1.47 | EPHB4 | Louise Daugherty Phenotypes for gene: EPHB4 were changed from Capillary malformation-arteriovenous malformation 2; 618196 to Capillary malformation-arteriovenous malformation 2; 618196; capillary malformation, epistaxis, telangiectasia, cerebral AVM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary haemorrhagic telangiectasia v1.46 | EPHB4 | Louise Daugherty Added comment: Comment on publications: Added PMID: 30760892 from external reviewer to support upgrading of gene to Green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary haemorrhagic telangiectasia v1.46 | EPHB4 | Louise Daugherty Publications for gene: EPHB4 were set to 28687708; 28730721 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary haemorrhagic telangiectasia v1.45 | EPHB4 | Louise Daugherty Mode of inheritance for gene: EPHB4 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary haemorrhagic telangiectasia v1.44 | EPHB4 | Claire Shovlin reviewed gene: EPHB4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28687708 PMID: 30760892; Phenotypes: capillary malformation, epistaxis, telangiectasia, cerebral AVM; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary haemorrhagic telangiectasia v1.44 | EPHB4 | Ellen Thomas Classified gene: EPHB4 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary haemorrhagic telangiectasia v1.44 | EPHB4 | Ellen Thomas Gene: ephb4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary haemorrhagic telangiectasia v1.43 | EPHB4 |
Ellen Thomas gene: EPHB4 was added gene: EPHB4 was added to Hereditary haemorrhagic telangiectasia. Sources: Other Mode of inheritance for gene: EPHB4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: EPHB4 were set to 28687708; 28730721 Phenotypes for gene: EPHB4 were set to Capillary malformation-arteriovenous malformation 2; 618196 Penetrance for gene: EPHB4 were set to Incomplete Review for gene: EPHB4 was set to AMBER Added comment: At least one family in 100k recruited under HHT has a mutation in this gene as it's an overlap condition. Consider whether to include with the GLH specialist group for GMS diagnostic analysis. Sources: Other |
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