Rare genetic inflammatory skin disorders
Gene: STAT3Comment on phenotypes: Previous phenotypes:
HyperIgE syndrome;ADMIO1;HIES1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1;HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANTCreated: 24 Mar 2021, 2:10 p.m. | Last Modified: 24 Mar 2021, 2:10 p.m.
Panel Version: 1.34
This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: STAT3; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.Created: 31 Jan 2019, 2:02 p.m.
Variants in this GENE are reported as part of current diagnostic practice
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
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
Source London North GLH was added to STAT3.
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