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  3. CPE
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Differences of Sex Development

Gene: CPE

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

8 individuals from 5 unrelated families reported.
Sources: Literature
Created: 29 Sep 2021, 3:14 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intellectual developmental disorder and hypogonadotropic hypogonadism, MIM# 619326

Publications

Created: 29 Sep 2021, 3:14 a.m.

Panel version: 0.214

Details

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

History Filter Activity

29 Sep 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).

29 Sep 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).

29 Sep 2021, Gel status: 1

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 Differences of Sex Development. Sources: Literature Mode of inheritance for gene: CPE was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CPE were set to 26120850; 32936766; 34383079 Phenotypes for gene: CPE were set to Intellectual developmental disorder and hypogonadotropic hypogonadism, MIM# 619326 Review for gene: CPE was set to GREEN