Hypogonadotropic hypogonadism (GMS)
Gene: CPEAfter NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains AMBER. The additional comments from GLH's is "Patients present with obesity so likely to be tested under obesity panel. No cases of isolated IHH"Created: 31 Jan 2023, 5:03 p.m. | Last Modified: 31 Jan 2023, 5:03 p.m.
Panel Version: 2.5
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, 3:01 p.m. | Last Modified: 28 Sep 2021, 3:01 p.m.
Panel Version: 1.45
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, 3 p.m. | Last Modified: 28 Sep 2021, 3 p.m.
Panel Version: 1.44
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
Four affected individuals from two unrelated families reported, bi-allelic LoF variants.
Sources: LiteratureCreated: 11 Jun 2021, 8:32 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Intellectual developmental disorder and hypogonadotropic hypogonadism, MIM# 619326
Publications
Tag Q3_21_rating was removed from gene: CPE.
Publications for gene: CPE were set to 26120850; 32936766
Gene: cpe has been classified as Amber List (Moderate Evidence).
Tag watchlist was removed from gene: CPE. Tag Q3_21_rating tag was added to gene: CPE.
gene: CPE was added gene: CPE was added to Hypogonadotropic hypogonadism idiopathic. Sources: Expert Review Amber,Literature watchlist tags were added to gene: CPE. 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, OMIM:619326