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| Vascular skin disorders v1.16 | ENG | Ivone Leong Phenotypes for gene: ENG were changed from Hereditary haemorrhagic telengiectasia to Telangiectasia, hereditary hemorrhagic, type 1, OMIM:187300 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular skin disorders v1.15 | ENG | Ivone Leong Publications for gene: ENG were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular skin disorders v1.12 | ATM | Ivone Leong Phenotypes for gene: ATM were changed from Ataxia telengiectasia to Ataxia telengiectasia, OMIM:208900 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular skin disorders v1.6 | ACVRL1 |
Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Hereditary haemorrhagic telengiectasia |
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| Vascular skin disorders v1.6 | ACVRL1 | Ivone Leong Phenotypes for gene: ACVRL1 were changed from Hereditary haemorrhagic telengiectasia to Telangiectasia, hereditary hemorrhagic, type 2, OMIM:600376 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular skin disorders v0.24 | ENG | Tom Cullup reviewed gene: ENG: Rating: GREEN; Mode of pathogenicity: ; Publications: 7894484; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular skin disorders v0.5 | ENG | Rebecca Foulger Source London North GLH was added to ENG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular skin disorders v0.4 | ENG | Rebecca Foulger reviewed gene: ENG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular skin disorders v0.3 | ENG |
Rebecca Foulger gene: ENG was added gene: ENG was added to Vascular skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ENG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ENG were set to Hereditary haemorrhagic telengiectasia |
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| Vascular skin disorders v0.3 | ATM |
Rebecca Foulger gene: ATM was added gene: ATM was added to Vascular skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ATM was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: ATM were set to Ataxia telengiectasia |
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| Vascular skin disorders v0.3 | ACVRL1 |
Rebecca Foulger gene: ACVRL1 was added gene: ACVRL1 was added to Vascular skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ACVRL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ACVRL1 were set to Hereditary haemorrhagic telengiectasia |
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