MAFB

MAF bZIP transcription factor B
OMIM: 608968, ClinGen, DECIPHER

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green MAFB in Mendeliome


Version 2.0

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 1.0

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 1.0

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 1.0

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 2.0

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 2.0

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 2.0

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