MEFV

MEFV, pyrin innate immunity regulator
OMIM: 608107, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Red MEFV in Familial hidradenitis suppurativa

Level 3: Skin adnexa disorders
Level 2: Dermatological disorders
Version 1.1

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Mediterranean fever with hidradenitis suppurativa
  • Familial Mediterranean fever, AD, 134610
  • Familial Mediterranean fever, AR, 249100

Green MEFV in Periodic fever syndromes

Level 3: Multi-system inflammatory/autoimmune disorders
Level 2: Rheumatological disorders
Version 1.12

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
Phenotypes
  • Hereditary Periodic Fever Syndromes
  • Familial Mediterranean Fever
  • Familial Mediterranean fever, AD, 134610
  • Familial Mediterranean fever, AR, 249100

Green MEFV in Infantile enterocolitis & monogenic inflammatory bowel disease

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.19

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert list
Phenotypes
  • Familial Mediterranean fever, AD 134610
  • Familial Mediterranean fever, AR 249100

Green MEFV in Gastrointestinal epithelial barrier disorders

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.60

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Early Onset Inflammatory Bowel Disease
  • Familial Mediterranean fever, AD 134610
  • Familial Mediterranean fever, AR 249100

Green MEFV in COVID-19 research


Level 2: Viral research
Version 1.77

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • GRID V2.0
  • Victorian Clinical Genetics Services
  • North West GLH
  • ESID Registry 20171117
  • Expert Review Green
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • ESID Registry 20171117
  • GRID V2.0
Phenotypes
  • Familial mediterranean fever defect
  • Recurrent fever, serositis and inflammation responsive to colchicine. Predisoposes to vasculitis and inflammatory bowel disease.
  • Autoinflammatory Disorders
  • Familial Mediterranean fever, AD 134610
  • Familial Mediterranean fever, AR 249100

Green MEFV in Primary immunodeficiency


Version 2.421
Latest signed off version: v2.1 (24 Feb 2020)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
  • GRID V2.0
Phenotypes
  • Familial Mediterranean fever, AD 134610
  • Familial Mediterranean fever, AR 249100
  • Familial mediterranean fever defect
  • Recurrent fever, serositis and inflammation responsive to colchicine. Predisoposes to vasculitis and inflammatory bowel disease.
  • Autoinflammatory Disorders

Red MEFV in Proteinuric renal disease

Level 3: Syndromes with prominent renal abnormalities
Level 2: Renal and urinary tract disorders
Version 2.50
Latest signed off version: v2.32 (16 Oct 2020)

Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review Not set
    Sources
    • NHS GMS
    Phenotypes
    • Familial Mediterranean fever, AR #249100

    Green MEFV in Severe Paediatric Disorders


    Version 1.77

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Familial Mediterranean fever, AD, 134610
    • Familial Mediterranean fever, AR, 249100