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Intellectual disability

Gene: MAFB

Red List (low evidence)

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

3 reviews

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: 23670161
Created: 27 Feb 2018, 1:57 p.m.

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_ddg2p_20141118_conf;in_ddg2p_20141118_conf;in_ddg2p_201507;in_ddg2p_201507_conf;in_ddg2p_2_4_2017;in_ddg2p_2_4_2017_conf . Main mutation mechanism : Activating
Created: 27 Jul 2017, 7:21 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Publications

Mode of pathogenicity
Other

Louise Daugherty (Genomics England Curator)

Comment on list classification: This gene is from an expert list and needs further assessment by the Genomics England curation team to access inclusion and pertinence to this panel.
Created: 28 Jul 2017, 1:15 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Expert Review Red
  • Expert Review Amber
Phenotypes
  • Duane retraction syndrome 3 (617041)
  • Multicentric carpotarsal osteolysis syndrome (166300)
OMIM
608968
Clinvar variants
Variants in MAFB
Penetrance
Complete
Publications
Mode of Pathogenicity
Other - please provide details in the comments
Panels with this gene

History Filter Activity

12 Mar 2018, Gel status: 1

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

12 Mar 2018, Gel status: 1

Added New Source, Set publications

Ellen McDonagh (Genomics England Curator)

Expert Review Red was added to MAFB. Panel: Intellectual disability Publications for gene MAFB was set to ['3591830', '3041835', '23670161']

28 Jul 2017, Gel status: 2

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

27 Jul 2017, Gel status: 0

Added New Source

BRIDGE consortium (NIHRBR-RD)

MAFB was added to Intellectual disabilitypanel. Sources: BRIDGE study SPEED NEURO Tier1 Gene

27 Jul 2017, Gel status: 0

Created

BRIDGE consortium (NIHRBR-RD)

MAFB was created by BRIDGE