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| Intellectual disability - microarray and sequencing v3.355 | INTS6 | Arina Puzriakova Added comment: Comment on list classification: The Red review by Konstantinos Varvagiannis supports the current Red rating of CPD. There is currently no evidence to support this gene-disease association, and therefore have kept rating as Red. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability - microarray and sequencing v3.354 | CPD | Arina Puzriakova Classified gene: CPD as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability - microarray and sequencing v3.354 | CPD | Arina Puzriakova Added comment: Comment on list classification: The Red review by Konstantinos Varvagiannis supports the current Red rating of CPD. There is currently no evidence to support this gene-disease association, and therefore have kept rating as Red. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability - microarray and sequencing v3.354 | CPD | Arina Puzriakova Gene: cpd has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability - microarray and sequencing v2.1046 | CPD |
Konstantinos Varvagiannis changed review comment from: 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]. 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.; to: 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. |
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| Intellectual disability - microarray and sequencing v2.1046 | CPD | Konstantinos Varvagiannis reviewed gene: CPD: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability - microarray and sequencing v2.468 | CPD |
Louise Daugherty 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 |
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