Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: CDCA7
agree with green geneCreated: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
YES- this is covered on our targeted exomeCreated: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
immunodeficiency, centromeric instability, facial anomalies syndrome type 3; recurrent respiratory infections; hypogammaglobulinaemia; enteropathy
Publications
As a result of watchlist tag audit the watchlist tag was removed from CDCA7- this is now a green gene with sufficient evidence/reviewCreated: 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 1Created: 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 associationCreated: 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 GreenCreated: 20 Jun 2018, 9:33 p.m.
added watchlist-tagCreated: 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 variableCreated: 30 Apr 2018, 11:52 a.m.
Comment on mode of inheritance: MOI from PMID:26216346Created: 26 Apr 2018, 2:19 p.m.
Comment on phenotypes: added phenotype from omimCreated: 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
Tag watchlist was removed from gene: CDCA7.
Source NHS GMS was added to CDCA7.
Source North West GLH was added to CDCA7.
Source London North GLH was added to CDCA7.
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.
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
IUIS Classification February 2018 was added to CDCA7. Panel: Primary immunodeficiency disorders
Gene: cdca7 has been classified as Green List (High Evidence).
Gene: cdca7 has been classified as Green List (High Evidence).
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
Publications for gene: CDCA7 were set to 29339483; 28128455; 27328760; 26216346; 29659838; 15952214; 1999836; 26216346
Publications for CDCA7 were set to 29339483; 28128455; 27328760; 26216346; 29659838; 15952214; 1999836
Publications for CDCA7 were set to 29339483; 28128455; 27328760; 26216346; 29659838
Phenotypes for CDCA7 were set to Immunodeficiency-centromeric instability-facial anomalies syndrome; ICF; Immunodeficiency-centromeric instability-facial anomalies syndrome 3, 616910; ICF3
Mode of inheritance for CDCA7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for CDCA7 were set to Immunodeficiency-centromeric instability-facial anomalies syndrome; ICF; Immunodeficiency-centromeric instability-facial anomalies syndrome 3, 616910
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Amber List (Moderate Evidence).
CDCA7 was added to Primary immunodeficiency disorders panel. Sources: Literature
CDCA7 was created by Louise Daugherty