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Inborn errors of metabolism

Gene: CNDP1

Red List (low evidence)

CNDP1 (carnosine dipeptidase 1)
EnsemblGeneIds (GRCh38): ENSG00000150656
EnsemblGeneIds (GRCh37): ENSG00000150656
OMIM: 609064, Gene2Phenotype
CNDP1 is in 2 panels

1 review

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

Not associated with phenotype in OMIM or G2P. No variants reported.
Created: 23 Feb 2017, 5:12 p.m.

Mode of inheritance
Unknown

Phenotypes
Carnosinaemia (Other disorders of peptide metabolism)

Publications

Details

Mode of Inheritance
Unknown
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Red
Phenotypes
  • Carnosinaemia (Other disorders of peptide metabolism)
OMIM
609064
Clinvar variants
Variants in CNDP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 1

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to CNDP1. Source London North GLH was added to CNDP1.

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: CNDP1 was added gene: CNDP1 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: CNDP1 was set to Unknown Publications for gene: CNDP1 were set to 27604308 Phenotypes for gene: CNDP1 were set to Carnosinaemia (Other disorders of peptide metabolism)