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| Rare genetic inflammatory skin disorders v1.34 | STAT3 |
Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: HyperIgE syndrome;ADMIO1;HIES1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1;HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT |
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| Rare genetic inflammatory skin disorders v1.34 | STAT3 | Ivone Leong Phenotypes for gene: STAT3 were changed from HyperIgE syndrome; ADMIO1; HIES1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT to Hyper-IgE recurrent infection syndrome, OMIM:147060; Autoimmune disease, multisystem, infantile-onset, 1, OMIM:615952 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v0.22 | STAT3 |
Catherine Snow Added phenotypes ADMIO1; HIES1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT for gene: STAT3 Publications for gene STAT3 were changed from to 17676033; 25038750 |
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| Rare genetic inflammatory skin disorders v0.21 | STAT3 | Tom Cullup reviewed gene: STAT3: Rating: GREEN; Mode of pathogenicity: ; Publications: 17676033, 25038750; Phenotypes: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT, HIES1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1, ADMIO1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v0.5 | STAT3 | Rebecca Foulger Source London North GLH was added to STAT3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v0.4 | STAT3 | Rebecca Foulger reviewed gene: STAT3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v0.3 | STAT3 |
Rebecca Foulger gene: STAT3 was added gene: STAT3 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: STAT3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: STAT3 were set to HyperIgE syndrome |
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