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| Rare genetic inflammatory skin disorders v1.8 | ADA2 |
Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: VAIHS (Polyarteritis nodosa);Polyarteritis nodosa;VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME |
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| Rare genetic inflammatory skin disorders v1.8 | ADA2 | Ivone Leong Phenotypes for gene: ADA2 were changed from VAIHS (Polyarteritis nodosa); Polyarteritis nodosa; VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME to Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, OMIM:615688 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v0.22 | ADA2 |
Catherine Snow Added phenotypes VAIHS (Polyarteritis nodosa); VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME for gene: ADA2 Publications for gene ADA2 were changed from to 24552284 |
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| Rare genetic inflammatory skin disorders v0.21 | ADA2 | Tom Cullup reviewed gene: ADA2: Rating: GREEN; Mode of pathogenicity: ; Publications: 24552284; Phenotypes: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME, VAIHS (Polyarteritis nodosa); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v0.5 | ADA2 | Rebecca Foulger Source London North GLH was added to ADA2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v0.4 | ADA2 | Rebecca Foulger reviewed gene: ADA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v0.3 | ADA2 |
Rebecca Foulger gene: ADA2 was added gene: ADA2 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ADA2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ADA2 were set to Polyarteritis nodosa |
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