Congenital hyperinsulinism
Gene: MAFA
MAFA (MAF bZIP transcription factor A)
EnsemblGeneIds (GRCh38): ENSG00000182759
EnsemblGeneIds (GRCh37): ENSG00000182759
OMIM: 610303, Gene2Phenotype
MAFA is in 1 panel
EnsemblGeneIds (GRCh38): ENSG00000182759
EnsemblGeneIds (GRCh37): ENSG00000182759
OMIM: 610303, Gene2Phenotype
MAFA is in 1 panel
2 reviews
Jayne Houghton (Royal Devon and Exeter Foundation Trust)
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)
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.
Details
- Sources
-
- NHS GMS
- OMIM
- 610303
- Clinvar variants
- Variants in MAFA
- Penetrance
- None
- 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