Rare genetic inflammatory skin disorders
Gene: IL1RN
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
OSTEOMYELITIS, STERILE MULTIFOCAL, WITH PERIOSTITIS AND PUSTULOSIS; OMPP
Publications
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: IL1RN; 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: IL1RN were changed from OSTEOMYELITIS, STERILE MULTIFOCAL, WITH PERIOSTITIS AND PUSTULOSIS, OMIM:612852 to Interleukin 1 receptor antagonist deficiency, OMIM:612852
Phenotypes for gene: IL1RN were changed from OSTEOMYELITIS, STERILE MULTIFOCAL, WITH PERIOSTITIS AND PUSTULOSIS; OMPP; Recurrent pustular psoriasis to OSTEOMYELITIS, STERILE MULTIFOCAL, WITH PERIOSTITIS AND PUSTULOSIS, OMIM:612852
Added phenotypes OMPP; OSTEOMYELITIS, STERILE MULTIFOCAL, WITH PERIOSTITIS AND PUSTULOSIS for gene: IL1RN Publications for gene IL1RN were changed from to 19494218
Source London North GLH was added to IL1RN.
gene: IL1RN was added gene: IL1RN was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: IL1RN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IL1RN were set to Recurrent pustular psoriasis