This Panel is marked as Internal
Intellectual disability update Jan 2018
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)
Comment on list classification: Associated with Duane retraction syndrome 3 (MIM: 617041) and Multicentric carpotarsal osteolysis syndrome (MIM: 166300) in OMIM and Gene2Phenotype. Mental retardation and minor facial anomalies have been noted in some patients with Multicentric carpotarsal osteolysis syndrome in two papers from the late 1980s, PMID: 3591830 and 3041835 but haven't got access to those papers. No reports of intellectual disability phenotypes in more recent papers e.g. PMID: 23670161Created: 27 Feb 2018, 1:57 p.m.
Details
- Sources
-
- Expert Review Red
- BRIDGE study SPEED NEURO Tier1 Gene
- Phenotypes
-
- Duane retraction syndrome 3 (617041)
- Multicentric carpotarsal osteolysis syndrome (166300)
- OMIM
- 608968
- Clinvar variants
- Variants in MAFB
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
27 Feb 2018, Gel status: 1
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for MAFB were set to Duane retraction syndrome 3 (617041); Multicentric carpotarsal osteolysis syndrome (166300)
27 Feb 2018, Gel status: 1
Set publications
Eleanor Williams (Genomics England Curator)Publications for MAFB were set to 3591830; 3041835; 23670161
27 Feb 2018, Gel status: 1
Gene classified by Genomics England curator
Eleanor Williams (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
18 Dec 2017, Gel status: 2
Added New Source
Ellen McDonagh (Genomics England Curator)MAFB was added to Intellectual disability update Jan 2018 panel. Sources: BRIDGE study SPEED NEURO Tier1 Gene,Expert Review Amber
18 Dec 2017, Gel status: 2
Created
Ellen McDonagh (Genomics England Curator)MAFB was created by Ellen McDonagh