1. Panels
  2. Skeletal dysplasia
  3. MAFB
Genes in panel
Prev Next
STRs in panel
Prev Next

Skeletal dysplasia

Gene: MAFB

Green List (high evidence)
MAFB (MAF bZIP transcription factor B)
EnsemblGeneIds (GRCh38): ENSG00000204103
EnsemblGeneIds (GRCh37): ENSG00000204103
OMIM: 608968, Gene2Phenotype
MAFB is in 6 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least 3 families and supportive functional data.
Created: 15 Nov 2021, 5:55 a.m. | Last Modified: 15 Nov 2021, 5:55 a.m.
Panel Version: 0.9735

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Duane retraction syndrome 3, MIM# 617041

Publications

Created: 15 Nov 2021, 5:55 a.m.
Last Modified: 15 Nov 2021, 5:55 a.m.
Panel version: Imported from Mendeliome panel version 0.9735

Daniel Flanagan (Victorian Clinical Genetics Services)

Green List (high evidence)

Monoalleic MAFB variants reported in at least 9 families with multicentric carpotarsal osteolysis (MCTO). Renal disease appears later in life in the majority of cases and evolves quickly to end stage renal failure. Proteinuria is common. Rheumatologic symptoms begin in childhood, age 0-6 years. 1 patient reported to have congenital diaphragmatic hernia.
Created: 15 Nov 2021, 2:20 a.m. | Last Modified: 15 Nov 2021, 2:20 a.m.
Panel Version: 0.9733

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Multicentric carpotarsal osteolysis syndrome (MIM#166300)

Publications

Created: 15 Nov 2021, 2:20 a.m.
Last Modified: 15 Nov 2021, 2:20 a.m.
Panel version: Imported from Mendeliome panel version 0.9733

Details

Mode of Inheritance
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
OMIM
608968
Clinvar variants
Variants in MAFB
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Dec 2019, Gel status: 3

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 Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert Review Green Mode of inheritance for gene: MAFB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MAFB were set to 30430035; 30305815; 2387013 Phenotypes for gene: MAFB were set to Multicentric carpotarsal osteolysis syndrome 166300