MAF

MAF bZIP transcription factor
OMIM: 177075, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Green MAF in Cataracts

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 2.110
Latest signed off version: v2.76 (5 Aug 2021)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cataract, pulverulent or cerulean, with or without microcornea, 610202
  • CATARACT, DEAFNESS, INTELLECTUAL DISABILITY, SEIZURES, AND A DOWN SYNDROME-LIKE FACIES
  • CATARACT CONGENITAL CERULEAN TYPE 4
  • CATARACT PULVERULENT JUVENILE-ONSET MAF-RELATED (CAPJOM)
  • Ayme-Gripp syndrome
  • Cataract 21, multiple types
  • Cataract pulverulent or cerulean with or without microcornea

Green MAF in Corneal abnormalities

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.12

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cataract, pulverulent or cerulean, with or without microcornea, 610202
  • Cataract 21, multiple types 610202

Amber MAF in Ocular coloboma

Level 3: Ocular malformations
Level 2: Ophthalmological disorders
Version 1.46

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Literature
Phenotypes
  • Cataract 21, multiple types 610202

Green MAF in Fetal anomalies


Version 1.900
Latest signed off version: v1.92 (21 Aug 2020)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CATARACT, DEAFNESS, INTELLECTUAL DISABILITY, SEIZURES, AND A DOWN SYNDROME-LIKE FACIES
  • CATARACT CONGENITAL CERULEAN TYPE 4
  • CATARACT PULVERULENT JUVENILE-ONSET MAF-RELATED

Green MAF in DDG2P


Version 2.76
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • Ayme-Gripp syndrome: CATARACT, DEAFNESS, INTELLECTUAL DISABILITY, SEIZURES, AND A DOWN SYNDROME-LIKE FACIES
    • CATARACT PULVERULENT JUVENILE-ONSET MAF-RELATED 610202
    • CATARACT CONGENITAL CERULEAN TYPE 4 610202

    Green MAF in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.563
    Latest signed off version: v2.2 (13 Feb 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Ayme-Gripp syndrome 601088

    Green MAF in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1659
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    Phenotypes
    • CATARACT, DEAFNESS, INTELLECTUAL DISABILITY, SEIZURES, AND A DOWN SYNDROME-LIKE FACIES

    Green MAF in Structural eye disease


    Version 1.132
    Latest signed off version: v1.3 (4 Mar 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Cataract 21, multiple types 610202

    Green MAF in Severe Paediatric Disorders


    Version 1.127

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Ayme-Gripp syndrome, 601088
    • Cataract 21, multiple types, 610202