Generalised pustular psoriasis
Gene: IL36RNEnsemblGeneIds (GRCh38): ENSG00000136695
EnsemblGeneIds (GRCh37): ENSG00000136695
OMIM: 605507, Gene2Phenotype
IL36RN is in 6 panels
3 reviews
catherine smith (Guys and St Thomas' NHS Foundation Trust)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Sarah Leigh (Genomics England Curator)
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.
Francesca Capon (King's College London)
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
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Psoriasis 14, pustular, OMIM:614204
- Tags
- OMIM
- 605507
- Clinvar variants
- Variants in IL36RN
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: IL36RN were changed from Psoriasis 14, pustular 614204 to Psoriasis 14, pustular, OMIM:614204
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to V1 24/11/2016
Set publications
Sarah Leigh (Genomics England Curator)Publications for IL36RN were set to 21839423; 25458002; 27388993
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for IL36RN was changed to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for IL36RN were set to Psoriasis 14, pustular 614204
Upload gene information
Ellen McDonagh (Genomics England Curator)IL36RN was added to Generalised pustular psoriasispanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
Upload gene information
Ellen McDonagh (Genomics England Curator)IL36RN was added to Generalised pustular psoriasispanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for gene IL36RN were set to Psoriasis, generalized pustular, 614204;Generalized Pustular Psoriasis
clearsources
Ellen McDonagh (Genomics England Curator)IL36RNAll sources for gene: IL36RNwere removed
Added New Source
Ellen McDonagh (Genomics England Curator)IL36RN was added to Generalised pustular psoriasispanel. Source: Eligibility statement prior genetic testing
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene IL36RN was set to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)IL36RN was added to Generalised pustular psoriasispanel. Source: Illumina TruGenome Clinical Sequencing Services
Added New Source
Ellen McDonagh (Genomics England Curator)IL36RN was added to Generalised pustular psoriasispanel. Sources: Radboud University Medical Center, Nijmegen