DEMO Diabetes neonatal onset
Gene: LPL
1 case was reported with lipoprotein lipase deficiency (confirmed biochemically) and transient neonatal diabetes. No genetic testing was undertaken in this patient. The Exeter laboratory has identified mutations in LPL in 2 unrelated patients.Created: 25 Jan 2019, 1:22 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
lipoprotein lipase deficiency; transient neonatal diabetes
Publications
Variants in this GENE are reported as part of current diagnostic practice
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: LPL; 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: Lipoprotein lipase deficiency (LPLD) and neonatal diabetes.Created: 11 Jan 2019, 4:27 p.m.
gene: LPL was added gene: LPL was added to DEMO Diabetes - neonatal onset. Sources: NHS GMS Mode of inheritance for gene: LPL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LPL were set to 12408192 Phenotypes for gene: LPL were set to lipoprotein lipase deficiency; transient neonatal diabetes