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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

2 reviews

Arina Puzriakova (Genomics England Curator)

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

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
watchlist
OMIM
114855
Clinvar variants
Variants in CPE
Penetrance
None
Publications
Panels with this gene

History Filter Activity

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