Congenital hyperinsulinism

Gene: MAFA

Red List (low evidence)

MAFA (MAF bZIP transcription factor A)
EnsemblGeneIds (GRCh38): ENSG00000182759
EnsemblGeneIds (GRCh37): ENSG00000182759
OMIM: 610303, Gene2Phenotype
MAFA is in 1 panel

2 reviews

Jayne Houghton (Royal Devon and Exeter Foundation Trust)

Red List (low evidence)

A MAFA missense variant has been reported as a cause of familial Hyperinsulinaemic hypoglycaemia but since there was no history of early onset hypoglycaemia suggestive of congenital hyperinsulinism (two families with 10 subjects with hyperinsulinemic hypoglycaemia) there is insufficient evidence to turn this gene to Green on this panel.
Created: 15 Feb 2019, 11:03 a.m.

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Initial gene list and info collated by Sian Ellard, University of Exeter Medical School, August 2018 on behalf of the GMS Endocrinology specialist test group. Gene Symbol submitted: MAFA; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given; Phenotypes: Familial insulinomatosis.
Created: 11 Jan 2019, 2:24 p.m.


Clinvar variants
Variants in MAFA
Panels with this gene

History Filter Activity

11 Jan 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

gene: MAFA was added gene: MAFA was added to Congenital hyperinsulinism. Sources: NHS GMS Mode of inheritance for gene: MAFA was set to