1. Panels
  2. Monogenic Diabetes
  3. CEL
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Monogenic Diabetes

Gene: CEL

Amber List (moderate evidence)
CEL (carboxyl ester lipase)
EnsemblGeneIds (GRCh38): ENSG00000170835
EnsemblGeneIds (GRCh37): ENSG00000170835
OMIM: 114840, Gene2Phenotype
CEL is in 3 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Comment when marking as ready: Agree, only frameshift mutations in the VNTR-containing exon 11 have evidence for pathogenicity.
Created: 27 Feb 2020, 1:54 a.m. | Last Modified: 27 Feb 2020, 1:54 a.m.
Panel Version: 0.4
Created: 27 Feb 2020, 1:54 a.m.
Last Modified: 27 Feb 2020, 1:54 a.m.
Panel version: 0.4

Elena Savva (Victorian Clinical Genetics Services)

Red List (low evidence)

Current studies show only VNTR convincingly cause this condition, not SNVs

Single study (PMID;27650499) shows some protein consequence from SNVs, but their presence in patients is questionable
Created: 24 Feb 2020, 9:49 p.m. | Last Modified: 24 Feb 2020, 9:49 p.m.
Panel Version: 0.3

Phenotypes
Maturity-onset diabetes of the young, type VIII

Publications

Created: 24 Feb 2020, 9:49 p.m.
Last Modified: 24 Feb 2020, 9:49 p.m.
Panel version: 0.3

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Diabetes and pancreatic exocrine dysfunction
  • Maturity-onset diabetes of the young, type VIII, 609812
OMIM
114840
Clinvar variants
Variants in CEL
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Feb 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cel has been classified as Amber List (Moderate Evidence).

27 Feb 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cel has been classified as Amber List (Moderate Evidence).

17 Jan 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CEL was added gene: CEL was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: CEL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CEL were set to 19760265; 21784842; 27650499; 18544793; 17989309; 24062244; 16369531; 25160620 Phenotypes for gene: CEL were set to Diabetes and pancreatic exocrine dysfunction; Maturity-onset diabetes of the young, type VIII, 609812