This Panel is marked as Retired
A- or hypo-gammaglobulinaemia
Gene: DNMT3B
DNMT3B (DNA methyltransferase 3 beta)
EnsemblGeneIds (GRCh38): ENSG00000088305
EnsemblGeneIds (GRCh37): ENSG00000088305
OMIM: 602900, Gene2Phenotype
DNMT3B is in 7 panels
EnsemblGeneIds (GRCh38): ENSG00000088305
EnsemblGeneIds (GRCh37): ENSG00000088305
OMIM: 602900, Gene2Phenotype
DNMT3B is in 7 panels
3 reviews
Sophie Hambleton (Newcastle University)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Immunodeficiency-centromeric instability-facial anomalies syndrome
Peter Arkwright (Royal Manchester Foundation Trust)
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 IgMCreated: 10 May 2016, 2:51 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 242860
- OMIM
- 602900
- Clinvar variants
- Variants in DNMT3B
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
10 May 2016, Gel status: 4
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
10 May 2016, Gel status: 4
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for DNMT3B were set to IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 242860
10 May 2016, Gel status: 4
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for DNMT3B was changed to BIALLELIC, autosomal or pseudoautosomal
10 May 2016, Gel status: 4
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
12 Oct 2015, Gel status: 0
Added New Source
Peter Arkwright (Royal Manchester Foundation Trust)DNMT3B was added to A- or hypo-gammaglobulinaemiapanel. Sources: Literature