MAFA

MAF bZIP transcription factor A
OMIM: 610303, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Amber MAFA in Cataract


Level 2: Ophthalmological disorders
Version 0.631

1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Insulinomatosis and diabetes mellitus, MIM# 147630

Green MAFA in Hyperinsulinism


Level 2: Endocrine disorders
Version 1.51

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Insulinomatosis and diabetes mellitus, OMIM #:147630

Green MAFA in Mendeliome


Version 1.4541

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Insulinomatosis and diabetes mellitus, OMIM #:147630

Green MAFA in Monogenic Diabetes


Level 2: Endocrine disorders
Version 0.204

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • 1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Other
    • Expert Review Green
    • Other
    Phenotypes
    • Insulinomatosis and diabetes mellitus, OMIM #:147630