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Newborns main panel

Gene: CEL

Amber List (moderate evidence)
CEL (carboxyl ester lipase)
EnsemblGeneIds (GRCh38): ENSG00000170835
EnsemblGeneIds (GRCh37): ENSG00000170835
OMIM: 114840, Gene2Phenotype
CEL is in 5 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is dominant-negative (DN).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
PMID: 34850019 - 5 cases including 3 from lit, Clingen: moderate https://search.clinicalgenome.org/kb/genes/HGNC:1848
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Initial reported patients phenotype caused by heterozygous fs mutation in the variable number of tandem repeats (VNTR) of CEL.
Created: 1 Jun 2023, 12:20 p.m. | Last Modified: 1 Jun 2023, 12:20 p.m.
Panel Version: 0.133
Created: 1 Jun 2023, 12:20 p.m.
Last Modified: 1 Jun 2023, 12:20 p.m.
Panel version: 0.137

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • Maturity-onset diabetes of the young, type VIII
OMIM
114840
Clinvar variants
Variants in CEL
Penetrance
None
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to CEL. Added phenotypes Maturity-onset diabetes of the young, type VIII for gene: CEL Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to CEL. Added phenotypes Maturity-onset diabetes of the young, type VIII for gene: CEL Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Removed Tag

Mafalda Gomes (Genomics England Curator)

Tag dominant-negative was removed from gene: CEL.

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to CEL. Added phenotypes Maturity-onset diabetes of the young, type VIII for gene: CEL Rating Changed from No List (delete) to Amber List (moderate evidence)

9 Mar 2023, Gel status: 0

Added Tag

Mafalda Gomes (Genomics England Curator)

Tag dominant-negative tag was added to gene: CEL.

9 Mar 2023, Gel status: 0

Set mode of pathogenicity

Mafalda Gomes (Genomics England Curator)

Mode of pathogenicity for gene: CEL was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

9 Mar 2023, Gel status: 0

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Maturity-onset diabetes of the young, type VIII for gene: CEL

9 Mar 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: CEL was added gene: CEL was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: CEL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown