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| Hereditary Haemorrhagic Telangiectasia v0.14 | EPHB4 | Zornitza Stark Marked gene: EPHB4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Haemorrhagic Telangiectasia v0.14 | EPHB4 | Zornitza Stark Gene: ephb4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Haemorrhagic Telangiectasia v0.14 | EPHB4 | Zornitza Stark Phenotypes for gene: EPHB4 were changed from Capillary malformation-arteriovenous malformation-2 to Capillary malformation-arteriovenous malformation-2, MIM# 618196 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Haemorrhagic Telangiectasia v0.13 | EPHB4 | Zornitza Stark Mode of inheritance for gene: EPHB4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Haemorrhagic Telangiectasia v0.12 | EPHB4 | Zornitza Stark reviewed gene: EPHB4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Capillary malformation-arteriovenous malformation 2, MIM# 618196; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Haemorrhagic Telangiectasia v0.9 | RASA1 | Zornitza Stark Added comment: Comment when marking as ready: Similarly to EPHB4, phenotypic overlap with HHT. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Haemorrhagic Telangiectasia v0.0 | EPHB4 |
Bryony Thompson gene: EPHB4 was added gene: EPHB4 was added to Hereditary Haemorrhagic Telangiectasia_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: EPHB4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: EPHB4 were set to Capillary malformation-arteriovenous malformation-2 |
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