MAF:Ensemblv90

MAF bZIP transcription factor
OMIM: 177075, ClinGen, DECIPHER

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green MAF in Cataract


Level 2: Ophthalmological disorders
Version 0.396

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Red MAF in Corneal Dystrophy


Level 2: Ophthalmological disorders
Version 1.13

1 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 1.3802

1 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 1.309

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • 1 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 1.508

    1 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 1.482

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

    Green MAF in Cataract


    Level 2: Ophthalmological disorders
    Version 1.0

    0 reviews Unknown
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services

    Red MAF in Corneal Dystrophy


    Level 2: Ophthalmological disorders
    Version 2.0

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

    Green MAF in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

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

    Green MAF in Fetal anomalies


    Version 2.0

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