CPE

carboxypeptidase E
OMIM: 114855, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green CPE in Severe early-onset obesity


Level 2: Endocrinology
Version 5.21
Latest signed off version: v5.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Intellectual developmental disorder and hypogonadotropic hypogonadism, OMIM:619326
Amber CPE in Hypogonadotropic hypogonadism (GMS)


Level 2: Endocrinology
Version 4.7
Latest signed off version: v4.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Intellectual developmental disorder and hypogonadotropic hypogonadism, OMIM:619326
Green CPE in Intellectual disability


Level 2: Developmental disorders
Version 9.285
Latest signed off version: v9.0 (30 Apr 2025)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Intellectual developmental disorder and hypogonadotropic hypogonadism, OMIM:619326