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Intellectual disability

Gene: CPE

Amber List (moderate evidence)

CPE (carboxypeptidase E)
EnsemblGeneIds (GRCh38): ENSG00000109472
EnsemblGeneIds (GRCh37): ENSG00000109472
OMIM: 114855, Gene2Phenotype
CPE is in 3 panels

3 reviews

Dmitrijs Rots (RadboudUMC)

Green List (high evidence)

Additional families reported by Bosch et al. Should be classified green now.
Created: 17 Sep 2021, 5:59 p.m. | Last Modified: 17 Sep 2021, 5:59 p.m.
Panel Version: 3.1282

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Obesity; intellectual disability

Publications

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There are now sufficient unrelated families (5) reported in literature presenting a relevant phenotype associated with variants in this gene to rate as Green at the next GMS panel update.
Created: 28 Sep 2021, 2:59 p.m. | Last Modified: 28 Sep 2021, 2:59 p.m.
Panel Version: 3.1309
Bosch et al. 2021 (PMID: 34383079) reported on 4 individuals from 3 additional families harbouring 2 different homozygous truncating variants in this gene. Clinical presentation was prominent for obesity and intellectual disability. Hypogonadotropic hypogonadism was confirmed in one individual and was suspected but not tested for in another two subjects.
Created: 28 Sep 2021, 2:55 p.m. | Last Modified: 28 Sep 2021, 2:55 p.m.
Panel Version: 3.1308
Comment on list classification: New gene added by Zornitza Stark. Two consanguineous families in literature to date with different homozygous variants in the CPE gene (PMIDs: 26120850; 32936766). Affected individuals presented with obesity, intellectual disability and hypogonadotropic hypogonadism. Rating Amber, awaiting further cases (added watchlist tag)
Created: 22 Jun 2021, 2:55 p.m. | Last Modified: 22 Jun 2021, 2:56 p.m.
Panel Version: 3.1142

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intellectual developmental disorder and hypogonadotropic hypogonadism, OMIM:619326

Publications

Zornitza Stark (Australian Genomics)

I don't know

Four affected individuals from two unrelated families reported, bi-allelic LoF variants.
Sources: Literature
Created: 11 Jun 2021, 8:32 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intellectual developmental disorder and hypogonadotropic hypogonadism, MIM# 619326

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Intellectual developmental disorder and hypogonadotropic hypogonadism, OMIM:619326
Tags
Q3_21_rating
OMIM
114855
Clinvar variants
Variants in CPE
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Sep 2021, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: CPE were set to 26120850; 32936766

28 Sep 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

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

28 Sep 2021, Gel status: 2

Removed Tag, Added Tag

Arina Puzriakova (Genomics England Curator)

Tag watchlist was removed from gene: CPE. Tag Q3_21_rating tag was added to gene: CPE.

22 Jun 2021, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag watchlist tag was added to gene: CPE.

22 Jun 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

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

22 Jun 2021, Gel status: 0

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

11 Jun 2021, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: CPE was added gene: CPE was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: CPE was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CPE were set to 26120850; 32936766 Phenotypes for gene: CPE were set to Intellectual developmental disorder and hypogonadotropic hypogonadism, MIM# 619326 Review for gene: CPE was set to AMBER