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Intellectual disability

Gene: CPD

Red List (low evidence)

CPD (carboxypeptidase D)
EnsemblGeneIds (GRCh38): ENSG00000108582
EnsemblGeneIds (GRCh37): ENSG00000108582
OMIM: 603102, Gene2Phenotype
CPD is in 1 panel

1 review

Konstantinos Varvagiannis (Other)

Red List (low evidence)

The gene was present in the current panel with red rating, though with no reviews.

In Pubmed there are no publications concerning eventual CPD-related phenotypes. There is no associated phenotype in OMIM or G2P, either. The gene is not included in the SysID and SFARI databases. The denovo-db lists 1 individual with autism and de novo LoF variant (NM_001304.4:c.2478C>G - p.Tyr826* - Iossifov et al. - PMID: 25363768) and 2 further with congenital heart disease. Still the gene encodes an enzyme (carboxyptidase D), so AR inheritance would seem more likely (?). [The gene has also a pLI of 0 in gnomAD and Z-score of 2.59. In Decipher %HI is 31.31]. CPD is not included in gene panels for ID offered by diagnostic laboratories (including also the current ID panel of VCGS which was listed as a source).

As a result, red rating (or removal from the current panel) seems appropriate.
Created: 24 Sep 2019, 3:43 p.m. | Last Modified: 24 Sep 2019, 3:48 p.m.
Panel Version: 2.1046

Details

Sources
OMIM
603102
Clinvar variants
Variants in CPD
Penetrance
None
Panels with this gene

History Filter Activity

28 Sep 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: CPD was added gene: CPD was added to Intellectual disability. Sources: Victorian Clinical Genetics Services Mode of inheritance for gene: CPD was set to