1. Genes and Genomic Entities
  2. CNDP1

CNDP1

carnosine dipeptidase 1
OMIM: 609064, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Red CNDP1 in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.617

review Unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Carnosinaemia (Other disorders of peptide metabolism)
Red CNDP1 in Likely inborn error of metabolism - targeted testing not possible


Version 5.3
Latest signed off version: v5.0 (1 May 2024)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review Unknown
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • Carnosinaemia (Other disorders of peptide metabolism)