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  3. CEL
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Maturity-onset Diabetes of the Young

Gene: CEL

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

3 reviews

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

All cases of monogenic diabetes convincingly attributed to this gene have been single base deletions in the proximal VNTR repeats that alter and shorten the VNTR repeat region and lead to the rare syndrome of autosomal dominant diabetes with exocrine pancreatic dysfunction with measurable fecal elastase deficiency or hereditary pancreatitis.

MODERATE rating ClinGen MODY expert panel
Created: 13 Nov 2023, 12:08 a.m. | Last Modified: 13 Nov 2023, 12:08 a.m.
Panel Version: 1.3

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Created: 13 Nov 2023, 12:08 a.m.
Last Modified: 13 Nov 2023, 12:08 a.m.
Panel version: 1.3

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Only frameshift mutations in the VNTR-containing exon 11 have convincing evidence for pathogenicity.
Created: 27 Feb 2020, 1:59 a.m. | Last Modified: 27 Feb 2020, 1:59 a.m.
Panel Version: 0.5

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Maturity-onset diabetes of the young, type VIII

Publications

Created: 27 Feb 2020, 1:59 a.m.
Last Modified: 27 Feb 2020, 1:59 a.m.
Panel version: 0.5

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: Imported from Mendeliome panel version Imported from Monogenic Diabetes panel version 0.3

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • 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

13 Nov 2023, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: cel has been classified as Green List (High Evidence).

13 Nov 2023, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: cel has been classified as Green List (High Evidence).

22 Sep 2022, Gel status: 2

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: CEL were set to

18 Jun 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

18 Jun 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

30 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: CEL was added gene: CEL was added to Maturity-onset Diabetes of the Young_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: CEL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CEL were set to Maturity-onset diabetes of the young, type VIII, 609812