Diabetes with additional phenotypes suggestive of a monogenic aetiology
Gene: CEL
CEL (carboxyl ester lipase)
EnsemblGeneIds (GRCh38): ENSG00000170835
EnsemblGeneIds (GRCh37): ENSG00000170835
OMIM: 114840, Gene2Phenotype
CEL is in 5 panels
EnsemblGeneIds (GRCh38): ENSG00000170835
EnsemblGeneIds (GRCh37): ENSG00000170835
OMIM: 114840, Gene2Phenotype
CEL is in 5 panels
2 reviews
Sian Ellard (University of Exeter Medical School)
Ellen McDonagh (Genomics England Curator)
Comment on list classification: "This is a very rare cause of diabetes and exocrine pancreatic dysfunction (2 families). The CEL gene is difficult to sequence and interpret due to the VNTR repeat sequences. The Exeter lab would only report frameshift mutations in the VNTR-containing exon 11 as pathogenic mutations." - Sian Ellard (University of Exeter Medical School), Aug. 23, 2015, 5:32 p.m.Created: 22 Jul 2016, 12:10 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Maturity-onset diabetes of the young, type VIII, 609812
- OMIM
- 114840
- Clinvar variants
- Variants in CEL
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
25 Jul 2016, Gel status: 1
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)25th July 2016: Panel revised acccording to expert review, further evidence sources and comparison with the Familial Diabetes version 1 panel. Promoted to version 1.
22 Jul 2016, Gel status: 1
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for CEL was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
22 Jul 2016, Gel status: 1
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
22 Jul 2016, Gel status: 1
Set publications
Ellen McDonagh (Genomics England Curator)Publications for CEL were set to 16369531
22 Jul 2016, Gel status: 1
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
17 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)CEL was added to Diabetes with additional phenotypes suggestive of a monogenic aetiologypanel. Sources: Radboud University Medical Center, Nijmegen