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  3. MAFB
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Proteinuria

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

3 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

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

Renal disease is documented in multiple patients with this skeletal dysplasia (MCTO). Mostly presenting with proteinuria, FSGS on biopsy, and progressive renal failure.
Sources: Literature
Created: 1 Oct 2020, 11:16 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Multicentric carpotarsal osteolysis syndrome, OMIM#166300

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 1 Oct 2020, 11:16 p.m.

Panel version: 0.136

Details

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

History Filter Activity

2 Oct 2020, 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).

1 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

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

1 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

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

1 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

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

1 Oct 2020, Gel status: 1

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

Chirag Patel (Genetic Health Queensland)

gene: MAFB was added gene: MAFB was added to Proteinuria. Sources: Literature Mode of inheritance for gene: MAFB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MAFB were set to PMID: 30208859; 29396697; 23956186 Phenotypes for gene: MAFB were set to Multicentric carpotarsal osteolysis syndrome, OMIM#166300 Review for gene: MAFB was set to GREEN gene: MAFB was marked as current diagnostic