Activity
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5 actions
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| Hyperinsulinism v1.30 | MAGEL2 | Zornitza Stark Marked gene: MAGEL2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperinsulinism v1.30 | MAGEL2 | Zornitza Stark Gene: magel2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperinsulinism v1.30 | MAGEL2 | Zornitza Stark Classified gene: MAGEL2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperinsulinism v1.30 | MAGEL2 | Zornitza Stark Gene: magel2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperinsulinism v1.29 | MAGEL2 |
Zornitza Stark gene: MAGEL2 was added gene: MAGEL2 was added to Hyperinsulinism. Sources: Expert list Mode of inheritance for gene: MAGEL2 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) Publications for gene: MAGEL2 were set to 25473036; 29599419; 31397880 Phenotypes for gene: MAGEL2 were set to Schaaf-Yang syndrome, MIM# 615547 Review for gene: MAGEL2 was set to GREEN Added comment: 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). 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). Sources: Expert list |
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