Genomics England
GMS Panels
Panels
Genes and Entities

CPE

carboxypeptidase E
OMIM: 114855
PanelMode of inheritanceDetails
2 panels
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.343
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Intellectual developmental disorder and hypogonadotropic hypogonadism, OMIM:619326
Green
in Severe early-onset obesity
R-numbers: R149
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Intellectual developmental disorder and hypogonadotropic hypogonadism, OMIM:619326