Congenital ophthalmoplegia

Gene: MAFB

Green List (high evidence)

MAFB (MAF bZIP transcription factor B)
EnsemblGeneIds (GRCh38): ENSG00000204103
EnsemblGeneIds (GRCh37): ENSG00000204103
OMIM: 608968, Gene2Phenotype
MAFB is in 7 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least 5 families reported with variants in this gene and Duane anomaly, supportive functional data. Some individuals also had inner ear agenesis and glomerular disease.
Sources: Literature
Created: 21 May 2025, 10:17 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Duane retraction syndrome 3, MIM# 617041

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Duane retraction syndrome 3, MIM# 617041
OMIM
608968
Clinvar variants
Variants in MAFB
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 May 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mafb has been classified as Green List (High Evidence).

21 May 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mafb has been classified as Green List (High Evidence).

21 May 2025, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MAFB was added gene: MAFB was added to Congenital ophthalmoplegia. Sources: Literature Mode of inheritance for gene: MAFB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MAFB were set to 27181683; 34964110; 29779709 Phenotypes for gene: MAFB were set to Duane retraction syndrome 3, MIM# 617041 Review for gene: MAFB was set to GREEN