Periodic fever syndromes
Gene: OSMREnsemblGeneIds (GRCh38): ENSG00000145623
EnsemblGeneIds (GRCh37): ENSG00000145623
OMIM: 601743, Gene2Phenotype
OSMR is in 3 panels
1 review
Alice Gardham (Genomics England)
Recognised in at least six families with cutaneous amyloidosisCreated: 1 Feb 2017, 3:23 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Amyloidosis, primary localized cutaneous, 1 105250
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Amyloidosis, primary localized cutaneous, 1, 105250
- OMIM
- 601743
- Clinvar variants
- Variants in OSMR
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
panel promoted to version 1
Rebecca Foulger (Genomics England curator)22nd February 2017: Promoted to V1. Panel was reviewed by Tracy Briggs and Alice Gardham. Panel was revised according to expert review and additional curation.
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Set publications
Alice Gardham (Genomics England)Publications for OSMR were set to 18179886
Set Mode of Inheritance
Alice Gardham (Genomics England)Mode of inheritance for OSMR was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)OSMR was added to Periodic fever syndromes and amyloidosis panel. Sources: Radboud University Medical Center, Nijmegen