OSMR

oncostatin M receptor
OMIM: 601743, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green OSMR in Mendeliome


Version 2.0

2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Amyloidosis, primary localized cutaneous, 1 - MIM#105250
  • Inborn error of immunity, MONDO:0003778, OSMR-related

Green OSMR in Amyloidosis


Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
Phenotypes
  • primary cutaneous amyloidosis MONDO:0015301

Green OSMR in Autoinflammatory Disorders


Level 2: Immunological disorders
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Inborn error of immunity, MONDO:0003778, OSMR-related

Green OSMR in Additional findings_Paediatric


Level 2: Screening
Version 1.0

0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Amyloidosis, primary cutaneous

Red OSMR in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • BabySeq Category A gene
Phenotypes
  • Amyloidosis, primary localized cutaneous, 1 - MIM#105250

Green OSMR in Hereditary Pigmentary Disorders


Level 2: Dermatological disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
Phenotypes
  • primary cutaneous amyloidosis MONDO:0015301