PanelApp (test)
  1. Genes and Genomic Entities
  2. MEFV

MEFV

MEFV, pyrin innate immunity regulator
OMIM: 608107, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green MEFV in Vasculitis


Level 2: Immunological disorders
Version 0.82

review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green MEFV in Inflammatory bowel disease


Level 2: Gastroenterological disorders
Version 0.121

Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green MEFV in Mendeliome


    Version 1.1902

    		review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Familial Mediterranean fever MIM# 249100

    Amber MEFV in Proteinuria


    Level 2: Renal and urinary tract disorders
    Version 0.225

    Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • Renal Glomerular Disease_SuperPanel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Familial Mediterranean fever MIM#134610
    • Familial Mediterranean fever MIM#249100
    • Neutrophilic dermatosis, acute febrile MIM#608068

    Green MEFV in Systemic Autoinflammatory Disease_Periodic Fever


    Level 2: Immunological disorders
    Version 1.47

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Familial Mediterranean fever, AD, MIM# 134610
    • Familial Mediterranean fever, AR, MIM# 249100
    • Neutrophilic dermatosis, MIM#608068

    Green MEFV in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Mediterranean fever, familial

    Red MEFV in Prepair 1000+


    Level 2: Screening
    Version 1.9

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Familial Mediterranean fever, AR (MIM#249100)

    Green MEFV in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.114

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BabySeq Category A gene
    Phenotypes
    • Familial Mediterranean fever MIM# 249100
    Tags
    • treatable
    • haematological