Neonatal diabetes
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.
Mode of inheritance for gene: LPL was changed from to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LPL were set to
Phenotypes for gene: LPL were changed from to lipoprotein lipase deficiency; transient neonatal diabetes
gene: LPL was added gene: LPL was added to Diabetes - neonatal onset. Sources: NHS GMS Mode of inheritance for gene: LPL was set to