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Intellectual disability

Gene: DCPS

Green List (high evidence)

DCPS (decapping enzyme, scavenger)
EnsemblGeneIds (GRCh38): ENSG00000110063
EnsemblGeneIds (GRCh37): ENSG00000110063
OMIM: 610534, Gene2Phenotype
DCPS is in 2 panels

2 reviews

Catherine Snow (Genomics England)

Comment on list classification: Following advice from Genomics England Clinical Team DCPS will be classified as Green. Advice was "I agree the third case is borderline. Their development is not a clear problem, although they are relatively young and were noted to have hypotonia. This might be a consequence of them having biallelic missense variants and potentially therefore less severe... evidence for or against that might emerge in time.

It looks like there are 6 individuals (from 3 families) in the first two papers however, and they have a relevant phenotype for the ID panel. On that basis I would include it as green."
Created: 24 Jun 2019, 9:37 a.m. | Last Modified: 24 Jun 2019, 9:37 a.m.
Panel Version: 0.192
Comment on list classification: Expert review by Konstantinos Varvagiannis on DCPS. Biallelic pathogenic DCPS variants cause Al-Raqad syndrome (OMIM 616459). 7 patients from 3 families have been reported to date, all summarised in PMID 30289615, most individuals belong to broader consanguineous families and have been previously described (PMIDs : 25712129, 25701870). The additional affected individual described in PMID 30289615 appears to exhibit different phenotypes, especially phenotypes associated with DD/ID.
Therefore unsure of rating due to patient three not exhibiting consistent phenotypes and the variant is missense, have currently requested advice from the clinical team.
Created: 16 May 2019, 2:39 p.m.

Konstantinos Varvagiannis (Other)

Green List (high evidence)

Biallelic pathogenic DCPS variants cause Al-Raqad syndrome (OMIM 616459).

7 patients from 3 families have been reported to date, all summarized in PMID 30289615 (first reports on the disorder - PMIDs : 25712129, 25701870).

Most individuals belong to consanguineous families although a compound heterozygous patient belonging to a broader consanguineous family (in PMID 25701870) and a further individual was born to unrelated parents originating from the same region (in PMID 30289615) have been described.

Overall, 2 splice site and 2 missense variants have been reported. Functional studies were carried out and support pathogenicity of the variants in the first 2 studies.

Developmental delay and intellectual disability are universal features.

DCPS is included in gene panels for intellectual disability offered by different diagnostic labs.

As a result this gene can be considered for inclusion in this panel as green.
Sources: Expert Review, Literature
Created: 12 Nov 2018, 10:55 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Al-Raqad syndrome (OMIM 616459)


Variants in this GENE are reported as part of current diagnostic practice


Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
  • Expert Review Green
  • Expert Review
  • Al-Raqad syndrome, 616459
  • Al-Raqad syndrome (OMIM 616459)
Clinvar variants
Variants in DCPS
Panels with this gene

History Filter Activity

25 Jul 2019, Gel status: 3

Added New Source, Set Phenotypes, Set publications, Status Update

Catherine Snow (Genomics England)

Source Expert Review Green was added to DCPS. Added phenotypes Al-Raqad syndrome, 616459 for gene: DCPS Publications for gene DCPS were changed from 25712129; 25701870; 30289615 to 25701870; 30289615; 25712129 Rating Changed from No List (delete) to Green List (high evidence)

12 Nov 2018, Gel status: 0

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

Konstantinos Varvagiannis (Other)

gene: DCPS was added gene: DCPS was added to Intellectual disability. Sources: Expert Review,Literature Mode of inheritance for gene: DCPS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DCPS were set to 25712129; 25701870; 30289615 Phenotypes for gene: DCPS were set to Al-Raqad syndrome (OMIM 616459) Penetrance for gene: DCPS were set to Complete Review for gene: DCPS was set to GREEN gene: DCPS was marked as current diagnostic