MAF

MAF bZIP transcription factor
OMIM: 177075, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green MAF in Cataract


Level 2: Ophthalmological disorders
Version 0.373

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

Red MAF in Corneal Dystrophy


Level 2: Ophthalmological disorders
Version 1.11

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Cataract 21, multiple types, MIM# 610202

Green MAF in Mendeliome


Version 1.2374

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ayme-Gripp syndrome (MIM#601088)

Green MAF in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.119

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    Phenotypes
    • Ayme-Gripp syndrome (MIM#601088)

    Green MAF in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.83

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Ayme-Gripp syndrome (MIM#601088)

    Green MAF in Fetal anomalies


    Version 1.314

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Ayme-Gripp syndrome (MIM#601088)