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Primary immunodeficiency

Gene: CDCA7

Green List (high evidence)

CDCA7 (cell division cycle associated 7)
EnsemblGeneIds (GRCh38): ENSG00000144354
EnsemblGeneIds (GRCh37): ENSG00000144354
OMIM: 609937, Gene2Phenotype
CDCA7 is in 3 panels

4 reviews

Kimberly Gilmour (Great Ormond Street Hopsital)

Green List (high evidence)

agree with green gene
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94

Tracy Briggs (Manchester Genomic Medicine Centre)

Green List (high evidence)

YES- this is covered on our targeted exome
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
immunodeficiency, centromeric instability, facial anomalies syndrome type 3; recurrent respiratory infections; hypogammaglobulinaemia; enteropathy

Publications

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

As a result of watchlist tag audit the watchlist tag was removed from CDCA7- this is now a green gene with sufficient evidence/review
Created: 13 Jan 2020, 4:39 p.m. | Last Modified: 13 Jan 2020, 4:39 p.m.
Panel Version: 2.0
Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): CDCA7 .PanelApp HGNC gene symbol check: CDCA7 . IUIS Disease: Immunodeficiency with centromeric instability and facial anomalies, ICF3 . IUIS Inheritance: AR .T cells: N/A, .B cells: Decreased or normal, .IUIS Other affected cells: N/A. IUIS Associated features: Facial dysmorphic features, macroglossia, bacterial/opportunistic infections, malabsorption, cytopenias, malignancies, multiradial configurations of chromosomes 1, 9, 16. IUIS Major category: Combined immunodeficiencies with associated or syndromic features. IUIS Subcategory: DNA Repair Defects other than those listed in Table 1
Created: 2 Jul 2018, 10:35 a.m.
Comment on list classification: Changed Amber to Green from external review comment and further publications to support gene-disease association
Created: 20 Jun 2018, 9:35 p.m.
Comment on phenotypes: Added phenotypes suggested from external expert review.
Created: 20 Jun 2018, 9:34 p.m.
Comment on publications: Added publications suggested from external expert review to support upgrading of the gene to Green
Created: 20 Jun 2018, 9:33 p.m.
added watchlist-tag
Created: 30 Apr 2018, 12:46 p.m.
From OMIM: In 5 patients from 4 unrelated families with ICF3, Thijssen et al. (2015) PMID:26216346 identified 4 different homozygous missense mutations in the CDCA7 gene. The mutations were found by a combination of homozygosity mapping and whole-exome sequencing. Segregation of the mutations was confirmed in 1 family only. All the mutations occurred at residues in the conserved C-terminal zinc finger domain, but functional studies of the variants were not performed. Knockdown of the CDCA7 gene in mouse embryonic fibroblasts resulted in decreased CpG methylation at centromeric repeats.
Created: 30 Apr 2018, 12:03 p.m.
from OMIM: Thijssen et al., 2015 PMID: 26216346 summarised Immunodeficiency-centromeric instability-facial anomalies syndrome-3 as an autosomal recessive disorder characterized by recurrent infections in childhood and variable dysmorphic facial features. Laboratory studies show hypomethylation of certain chromosomal regions. Additional features, including delayed development, are variable
Created: 30 Apr 2018, 11:52 a.m.
Comment on mode of inheritance: MOI from PMID:26216346
Created: 26 Apr 2018, 2:19 p.m.
Comment on phenotypes: added phenotype from omim
Created: 26 Apr 2018, 2:14 p.m.
Added from clinical team recommendation (Rachel Jones) after a literature review, to be curated thoroughly during panel review.
Created: 10 Apr 2018, 8:32 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency-centromeric instability-facial anomalies syndrome; ICF

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Expert Review Green
  • Literature
Phenotypes
  • Immunodeficiency-centromeric instability-facial anomalies syndrome
  • ICF
  • Immunodeficiency-centromeric instability-facial anomalies syndrome 3, 616910
  • ICF3
  • immunodeficiency, centromeric instability, facial anomalies syndrome type 3
  • recurrent respiratory infections
  • hypogammaglobulinaemia
  • enteropathy
  • Facial dysmorphic features, macroglossia, bacterial/opportunistic infections, malabsorption, cytopenias, malignancies, multiradial configurations of chromosomes 1, 9, 16
  • Combined immunodeficiencies with associated or syndromic features
OMIM
609937
Clinvar variants
Variants in CDCA7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Jan 2020, Gel status: 3

Removed Tag

Louise Daugherty (Genomics England Curator)

Tag watchlist was removed from gene: CDCA7.

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to CDCA7.

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source North West GLH was added to CDCA7.

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to CDCA7.

12 Jul 2018, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

2018-07-12 Louise Daugherty (Genomics England Curator) promoted panel to v1.0. Reviews were assessed, and panel was revised according to expert reviews and further in-house curation based on PanelApp guidelines. Previous panels (A- or hypo-gammaglobulinaemia, Congenital neutropaenia, Agranulocytosis, Combined B and T cell defect, Inherited complement deficiency and SCID panels) that were merged with this panel, were checked again for any changes/new reviews prior to versioning of this panel, these merged panels are now retired/made internal.

1 Jul 2018, Gel status: 4

Set penetrance

Louise Daugherty (Genomics England Curator)

Phenotypes for gene CDCA7 were set to Immunodeficiency-centromeric instability-facial anomalies syndrome, ICF, Immunodeficiency-centromeric instability-facial anomalies syndrome 3, 616910, ICF3, immunodeficiency, centromeric instability, facial anomalies syndrome type 3, recurrent respiratory infections, hypogammaglobulinaemia, enteropathy, Facial dysmorphic features, macroglossia, bacterial/opportunistic infections, malabsorption, cytopenias, malignancies, multiradial configurations of chromosomes 1, 9, 16, Combined immunodeficiencies with associated or syndromic features

26 Jun 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

IUIS Classification February 2018 was added to CDCA7. Panel: Primary immunodeficiency disorders

20 Jun 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: cdca7 has been classified as Green List (High Evidence).

20 Jun 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: cdca7 has been classified as Green List (High Evidence).

20 Jun 2018, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: CDCA7 were set to Immunodeficiency-centromeric instability-facial anomalies syndrome; ICF; Immunodeficiency-centromeric instability-facial anomalies syndrome 3, 616910; ICF3; immunodeficiency, centromeric instability, facial anomalies syndrome type 3; recurrent respiratory infections; hypogammaglobulinaemia; enteropathy

20 Jun 2018, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: CDCA7 were set to 29339483; 28128455; 27328760; 26216346; 29659838; 15952214; 1999836; 26216346

30 Apr 2018, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for CDCA7 were set to 29339483; 28128455; 27328760; 26216346; 29659838; 15952214; 1999836

30 Apr 2018, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for CDCA7 were set to 29339483; 28128455; 27328760; 26216346; 29659838

26 Apr 2018, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for CDCA7 were set to Immunodeficiency-centromeric instability-facial anomalies syndrome; ICF; Immunodeficiency-centromeric instability-facial anomalies syndrome 3, 616910; ICF3

26 Apr 2018, Gel status: 2

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for CDCA7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

26 Apr 2018, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for CDCA7 were set to Immunodeficiency-centromeric instability-facial anomalies syndrome; ICF; Immunodeficiency-centromeric instability-facial anomalies syndrome 3, 616910

20 Apr 2018, Gel status: 2

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

20 Apr 2018, Gel status: 2

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

10 Apr 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

CDCA7 was added to Primary immunodeficiency disorders panel. Sources: Literature

10 Apr 2018, Gel status: 1

Created

Louise Daugherty (Genomics England Curator)

CDCA7 was created by Louise Daugherty