Diabetes - neonatal onset

Gene: LPL

Red List (low evidence)

LPL (lipoprotein lipase)
EnsemblGeneIds (GRCh38): ENSG00000175445
EnsemblGeneIds (GRCh37): ENSG00000175445
OMIM: 609708, Gene2Phenotype
LPL is in 8 panels

2 reviews

Jayne Houghton (Royal Devon and Exeter Foundation Trust)

Red List (low evidence)

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

Ivone Leong (Genomics England Curator)

Green List (high evidence)

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.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
Phenotypes
  • lipoprotein lipase deficiency
  • transient neonatal diabetes
OMIM
609708
Clinvar variants
Variants in LPL
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Jan 2019, Gel status: 1

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene: LPL was changed from to BIALLELIC, autosomal or pseudoautosomal

28 Jan 2019, Gel status: 1

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: LPL were set to

28 Jan 2019, Gel status: 1

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: LPL were changed from to lipoprotein lipase deficiency; transient neonatal diabetes

11 Jan 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

gene: LPL was added gene: LPL was added to Diabetes - neonatal onset. Sources: NHS GMS Mode of inheritance for gene: LPL was set to