PanelApp
  1. Genes and Genomic Entities
  2. MAFB

MAFB

MAF bZIP transcription factor B
OMIM: 608968, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green MAFB in Mendeliome


Version 1.3499

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Multicentric carpotarsal osteolysis syndrome (MIM#166300)
  • Duane retraction syndrome 3, MIM# 617041

Green MAFB in Proteinuria


Level 2: Renal and urinary tract disorders
Version 0.231

Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • Renal Glomerular Disease_SuperPanel

    		•  3 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review Green
    • Literature
    • Victorian Clinical Genetics Services
    Phenotypes
    • Multicentric carpotarsal osteolysis syndrome, OMIM#166300

    Green MAFB in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.346

    		2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review Green
    • NHS GMS
    • Emory Genetics Laboratory
    • Victorian Clinical Genetics Services
    Phenotypes
    • Multicentric carpotarsal osteolysis syndrome 166300

    Green MAFB in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Multicentric carpotarsal osteolysis syndrome

    Green MAFB in Congenital ophthalmoplegia


    Level 2: Ophthalmological disorders
    Version 1.10

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Duane retraction syndrome 3, MIM# 617041

    Amber MAFB in Fetal anomalies


    Version 1.465

    		1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Genomics England PanelApp
    Phenotypes
    • Multicentric carpotarsal osteolysis syndrome (MIM#166300)

    Green MAFB in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • BabySeq Category A gene
    Phenotypes
    • Multicentric carpotarsal osteolysis syndrome (MIM#166300)
    Tags
    • for review