PanelApp (stage)
  1. Genes and Genomic Entities
  2. CPE

CPE

carboxypeptidase E
OMIM: 114855, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green CPE in Differences of Sex Development


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.293

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Intellectual developmental disorder and hypogonadotropic hypogonadism, MIM# 619326

Green CPE in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Intellectual developmental disorder and hypogonadotropic hypogonadism, MIM# 619326

Green CPE in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Intellectual developmental disorder and hypogonadotropic hypogonadism, MIM# 619326

Green CPE in Severe early-onset obesity


Level 2: Endocrine disorders
Version 1.10

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • BDV syndrome, MIM# 619326
  • Intellectual developmental disorder and hypogonadotropic hypogonadism