Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: DNMT3B
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
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): DNMT3B .PanelApp HGNC gene symbol check: DNMT3B . IUIS Disease: Immunodeficiency with centromeric instability and facial anomalies, ICF1 . IUIS Inheritance: AR .T cells: N/A, .B cells: Decreased or normal, .IUIS Other affected cells: N/A. IUIS Associated features: Facial dysmorphic features, developmental delay, 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.
Original metadata downloaded from ESID Registry. ESID_Gene_original: DNMT3B, PanelApp HGNC gene symbol check: DNMT3B, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Other well defined PIDs / DNA-breakage disorder / Immunodeficiency centromeric instability facial anomalies syndrome (ICF)Created: 17 Apr 2018, 12:29 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: DNMT3B, GRID_Gene_Symbol: DNMT3B, GRID_Transcript_ENS_Community submitted: ENST00000328111, GRID_Transcript_RefSeq: NM_006892.3, GRID_Transcript_ENS_used_on_Production: ENST00000328111Created: 17 Apr 2018, 12:12 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Immunodeficiency-centromeric instability-facial anomalies syndrome
Comment on list classification: confirmed association with Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (omim 242860), clinical tests for reduced IgA, increased IgMCreated: 10 May 2016, 2:51 p.m.
Source NHS GMS was added to DNMT3B.
Source North West GLH was added to DNMT3B.
Source London North GLH was added to DNMT3B.
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 DNMT3B were set to Immunodeficiency-centromeric instability-facial anomalies syndrome 1, 242860, Immunodeficiency-centromeric instability-facial anomalies syndrome 1, Immunodeficiency centromeric instability facial anomalies syndrome (ICF), Facial dysmorphic features, developmental delay, 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 DNMT3B. Panel: Primary immunodeficiency disorders
Victorian Clinical Genetics Services was added to DNMT3B. Panel: Primary immunodeficiency disorders
Gene: dnmt3b has been classified as Green List (High Evidence).
ESID Registry 20171117 was added to DNMT3B. Panel: Primary immunodeficiency disorders Phenotypes for gene DNMT3B were set to Immunodeficiency-centromeric instability-facial anomalies syndrome 1, 242860, Immunodeficiency-centromeric instability-facial anomalies syndrome 1, Immunodeficiency centromeric instability facial anomalies syndrome (ICF)
Phenotypes for gene DNMT3B were set to Immunodeficiency-centromeric instability-facial anomalies syndrome 1, 242860, Immunodeficiency-centromeric instability-facial anomalies syndrome 1
GRID V2.0 was added to DNMT3B. Panel: Primary immunodeficiency disorders Phenotypes for gene DNMT3B were set to Immunodeficiency-centromeric instability-facial anomalies syndrome 1, 242860, Immunodeficiency-centromeric instability-facial anomalies syndrome 1
Phenotypes for DNMT3B were set to Immunodeficiency-centromeric instability-facial anomalies syndrome 1, 242860
DNMT3B was added to Primary immunodeficiency disorders panel. Sources: Expert Review Green, A- or hypo-gammaglobulinaemia v1.25
DNMT3B was created by Louise Daugherty