Skeletal dysplasia
Gene: MAFB

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

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Osteolysis gp of SD. Also mutated in Duane retraction syndrome 3 - 617041.Multicentric carpotarsal osteolysis syndrome 166300 - at least 3 cases reported.; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Multicentric carpotarsal osteolysis syndrome 166300

Publications

Created: 6 Mar 2019, 11:44 a.m.

Panel version: 1.147

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: MAFB; Initial rating suggestion: green
Created: 6 Mar 2019, 11:36 a.m.

Created: 6 Mar 2019, 11:36 a.m.

Panel version: 1.146

Sarah Leigh (Genomics England Curator)

Comment on list classification: Used diagnostically by Ana Beleza (Guy's and St Thomas' NHS Foundation Trust)
Created: 21 Jun 2016, 12:57 p.m.

Created: 21 Jun 2016, 12:57 p.m.

Panel version: 0.49

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 3
Created: 17 Jun 2016, 8:05 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Multicentric carpotarsal osteolysis syndrome 166300

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

Created: 17 Jun 2016, 8:05 a.m.

Panel version: 0.4

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

NHS GMS
Expert Review Green
Emory Genetics Laboratory

Phenotypes

Multicentric carpotarsal osteolysis syndrome 166300

OMIM

608968

Clinvar variants

Variants in MAFB

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

6 May 2019, Gel status: 4

Set Phenotypes, Set publications

Eleanor Williams (Genomics England Curator)

Added phenotypes Multicentric carpotarsal osteolysis syndrome 166300 for gene: MAFB Publications for gene MAFB were changed from to 2387013; 30305815; 30430035

6 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to MAFB. Rating Changed from Green List (high evidence) to Green List (high evidence)

9 Aug 2016, Gel status: 4