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STRs in panel
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COVID-19 research

Gene: DNMT3B

Green List (high evidence)

DNMT3B (DNA methyltransferase 3 beta)
EnsemblGeneIds (GRCh38): ENSG00000088305
EnsemblGeneIds (GRCh37): ENSG00000088305
OMIM: 602900, Gene2Phenotype
DNMT3B is in 8 panels

6 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

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

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 1
Created: 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: ENST00000328111
Created: 17 Apr 2018, 12:12 p.m.

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency-centromeric instability-facial anomalies syndrome

Peter Arkwright (Royal Manchester Foundation Trust)

Green List (high evidence)

Sarah Leigh (Genomics England Curator)

Comment on list classification: confirmed association with Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (omim 242860), clinical tests for reduced IgA, increased IgM
Created: 10 May 2016, 2:51 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Facial dysmorphic features, developmental delay, macroglossia, bacterial/opportunistic infections, malabsorption, cytopenias, malignancies, multiradial configurations of chromosomes 1, 9, 16
  • Immunodeficiency-centromeric instability-facial anomalies syndrome 1, 242860
  • Immunodeficiency centromeric instability facial anomalies syndrome (ICF)
  • Immunodeficiency-centromeric instability-facial anomalies syndrome 1
  • Combined immunodeficiencies with associated or syndromic features
OMIM
602900
Clinvar variants
Variants in DNMT3B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Apr 2020, Gel status: 3

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

Ellen McDonagh (Genomics England Curator)

gene: DNMT3B was added gene: DNMT3B was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,A- or hypo-gammaglobulinaemia v1.25,IUIS Classification February 2018 Mode of inheritance for gene: DNMT3B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNMT3B were set to 10647011 Phenotypes for gene: DNMT3B were set to Facial dysmorphic features, developmental delay, macroglossia, bacterial/opportunistic infections, malabsorption, cytopenias, malignancies, multiradial configurations of chromosomes 1, 9, 16; Immunodeficiency-centromeric instability-facial anomalies syndrome 1, 242860; Immunodeficiency centromeric instability facial anomalies syndrome (ICF); Immunodeficiency-centromeric instability-facial anomalies syndrome 1; Combined immunodeficiencies with associated or syndromic features