Generalised pustular psoriasis
Gene: IL36RN
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. At least 8 variants reported, also reported as digenic with AP1S3 in two cases (PMID 27388993)Created: 4 Nov 2016, 2:48 p.m.
Comment on mode of inheritance: Based on result reported in PMID 25458002Created: 4 Nov 2016, 12:34 p.m.
Although IL36RN mutations have initially been identified in families where generalised pustular psoriasis segregates as a recessive trait, several affected individuals with monoallelic mutations have been identified in subsequent studies.Created: 15 Dec 2015, 9:27 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
generalised pustular psoriasis; acral pustular psoriasis
Publications
Phenotypes for gene: IL36RN were changed from Psoriasis 14, pustular 614204 to Psoriasis 14, pustular, OMIM:614204
Promoted to V1 24/11/2016
Publications for IL36RN were set to 21839423; 25458002; 27388993
This gene has been classified as Green List (High Evidence).
Mode of inheritance for IL36RN was changed to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
Phenotypes for IL36RN were set to Psoriasis 14, pustular 614204
IL36RN was added to Generalised pustular psoriasispanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
IL36RN was added to Generalised pustular psoriasispanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
Phenotypes for gene IL36RN were set to Psoriasis, generalized pustular, 614204;Generalized Pustular Psoriasis
IL36RNAll sources for gene: IL36RNwere removed
IL36RN was added to Generalised pustular psoriasispanel. Source: Eligibility statement prior genetic testing
Model of inheritance for gene IL36RN was set to BIALLELIC, autosomal or pseudoautosomal
IL36RN was added to Generalised pustular psoriasispanel. Source: Illumina TruGenome Clinical Sequencing Services
IL36RN was added to Generalised pustular psoriasispanel. Sources: Radboud University Medical Center, Nijmegen