Congenital hyperinsulinism
Gene: MAGEL2
The rating of this gene has been updated to Green and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)' following NHS Genomic Medicine Service approval.Created: 31 Jan 2023, 4:38 p.m. | Last Modified: 31 Jan 2023, 4:38 p.m.
Panel Version: 2.32
Comment on phenotypes: Congenital hyperinsulinism with hypoglycaemiaCreated: 27 Sep 2022, 4:23 p.m. | Last Modified: 27 Sep 2022, 4:23 p.m.
Panel Version: 2.29
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 27 Sep 2022, 4:21 p.m. | Last Modified: 27 Sep 2022, 4:21 p.m.
Panel Version: 2.28
Review on behalf of Jayne Houghton and Kevin Colclough, Exeter Genomics Laboratory, SWGLH. MAGEL2 is a maternally imprinted gene, paternally expressed, located on chromosome 15q11, within the critical region of Prader Willi syndrome. Congenital hyperinsulinism due to pathogenic variants on the paternal allele of MAGEL2 have been reported in 3 patients from 2 families with a diagnosis of persistent congenital hyperinsulinism and extra pancreatic features (ptosis, exotropia, high palate, smooth philtrum, inverted nipples, skeletal anomalies, hypotonia, low muscle mass and increased central distribution of body fat) (Soden et al Sci Transl Med 2014 PMID:25473036). In addition, the Exeter genomics laboratory has identified a further 2 patients from different families with de novo PTC's in MAGEL2 referred to the hyperinsulinism genetic testing service. Hypoglycaemia has been reported in a further 13 cases (Jobling et al J Med Genet 2018 PMID: 29599419, Patak et al 2019, Clin Genet PMID: 31397880).Created: 14 Sep 2022, 4:39 p.m. | Last Modified: 14 Sep 2022, 4:39 p.m.
Panel Version: 2.12
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications
Tag Q3_22_rating was removed from gene: MAGEL2. Tag Q3_22_MOI was removed from gene: MAGEL2. Tag Q3_22_NHS_review was removed from gene: MAGEL2.
Source Expert Review Green was added to MAGEL2. Source NHS GMS was added to MAGEL2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Phenotypes for gene: MAGEL2 were changed from to Schaaf-Yang syndrome, OMIM:615547; Schaaf-Yang syndrome, MONDO:0014243
Gene: magel2 has been classified as Amber List (Moderate Evidence).
Tag Q3_22_rating tag was added to gene: MAGEL2. Tag Q3_22_MOI tag was added to gene: MAGEL2. Tag Q3_22_NHS_review tag was added to gene: MAGEL2.
Mode of inheritance for gene: MAGEL2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: MAGEL2 were set to
gene: MAGEL2 was added gene: MAGEL2 was added to Congenital hyperinsulinism. Sources: Expert review Mode of inheritance for gene: MAGEL2 was set to