Proteinuric renal disease
Gene: MAFB
MAFB (MAF bZIP transcription factor B)
EnsemblGeneIds (GRCh38): ENSG00000204103
EnsemblGeneIds (GRCh37): ENSG00000204103
OMIM: 608968, Gene2Phenotype
MAFB is in 7 panels
EnsemblGeneIds (GRCh38): ENSG00000204103
EnsemblGeneIds (GRCh37): ENSG00000204103
OMIM: 608968, Gene2Phenotype
MAFB is in 7 panels
1 review
Eleanor Williams (Genomics England Curator)
This gene was part of an initial gene list collated by Elizabeth Watson, North Bristol NHS Trust, February 2019 on behalf of the GMS Renal Specialist Test Group. Gene Symbol submitted: MAFB; Suggested initial gene rating: amber; Evidence for inclusion: PMID:29779709; PMID: 22387013; Other comments: Two unrelated families with FSGS and Duane retraction syndrome with rare het variant in MAFB, plus supportive functional work (abstract only). Multiple reports of gene associated with Multicentric carpotarsal osteolysis, which includes renal failure as a feature. One diagnosis case received for testing, result not yet availableCreated: 4 Feb 2019, 10:41 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
FSGS with Duane retraction syndrome
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Sources
-
- NHS GMS
- Phenotypes
-
- FSGS with Duane retraction syndrome
- OMIM
- 608968
- Clinvar variants
- Variants in MAFB
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
23 Jun 2019, Gel status: 1
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: MAFB were changed from to FSGS with Duane retraction syndrome
23 Jun 2019, Gel status: 1
Set publications
Eleanor Williams (Genomics England Curator)Publications for gene: MAFB were set to
4 Feb 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance
Eleanor Williams (Genomics England Curator)gene: MAFB was added gene: MAFB was added to Proteinuric renal disease. Sources: NHS GMS Mode of inheritance for gene: MAFB was set to