Genes in panel

STRs in panel

Prev Next

Regions in panel

Prev Next

Severe early-onset obesity
Gene: CPE

CPE (carboxypeptidase E)
EnsemblGeneIds (GRCh38): ENSG00000109472
EnsemblGeneIds (GRCh37): ENSG00000109472
OMIM: 114855, Gene2Phenotype
CPE is in 4 panels

1 review

Belinda Chong (Victorian Clinical Genetics Services)

Green List (high evidence)

Several families reported, obesity is the main feature
Created: 2 Nov 2021, 10:21 p.m. | Last Modified: 2 Nov 2021, 10:21 p.m.

Panel Version: 0.59

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
BDV syndrome 619326

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 2 Nov 2021, 10:21 p.m.
Last Modified: 2 Nov 2021, 10:21 p.m.
Panel version: 0.59

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Genomics England PanelApp

Phenotypes

BDV syndrome, MIM# 619326
Intellectual developmental disorder and hypogonadotropic hypogonadism

OMIM

Clinvar variants

Variants in CPE

Penetrance

None

Publications

Panels with this gene

History Filter Activity

3 Nov 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CPE were changed from BDV syndrome, MIM# 619326 to BDV syndrome, MIM# 619326; Intellectual developmental disorder and hypogonadotropic hypogonadism

3 Nov 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

3 Nov 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CPE were changed from Intellectual developmental disorder and hypogonadotropic hypogonadism, OMIM:619326 to BDV syndrome, MIM# 619326

3 Nov 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CPE were set to 15870393; 34383079; 15358678; 26120850; 32936766

3 Nov 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

31 Oct 2021, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CPE was added gene: CPE was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Amber Mode of inheritance for gene: CPE was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CPE were set to 15870393; 34383079; 15358678; 26120850; 32936766 Phenotypes for gene: CPE were set to Intellectual developmental disorder and hypogonadotropic hypogonadism, OMIM:619326