Combined Immunodeficiency
Gene: DNMT3BEnsemblGeneIds (GRCh38): ENSG00000088305
EnsemblGeneIds (GRCh37): ENSG00000088305
OMIM: 602900, Gene2Phenotype
DNMT3B is in 14 panels
1 review
Danielle Ariti (University of Melbourne)
Well-established disease-gene association; more than 20 unrelated individuals; three mouse models
Homozygous and compound heterozygous missense, nonsense, splice-site (leading to 3aa insertion) result in LOF disease mechanism.
Individuals typically presented with immunodeficiencies (decreased immunoglobulin production, low T/B/NK cells), centric instability, facial anomalies and recurrent respiratory infections; however, severity varies.Created: 26 Jul 2021, 11:59 p.m. | Last Modified: 26 Jul 2021, 11:59 p.m.
Panel Version: 0.232
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Immunodeficiency-centromeric instability-facial anomalies syndrome 1 MIM# 242860; facial dysmorphic features; flat nasal bridge; developmental delay; macroglossia; bacterial/opportunistic infections (recurrent); malabsorption; cytopaenia; malignancies; multiradial configurations of chromosomes 1, 9, 16; Hypogammaglobulinaemia; agammaglobulinaemia; variable antibody deficiency; decreased immunoglobulin production; low T/B/NK cells
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Melbourne Genomics Health Alliance Immunology Flagship
- Victorian Clinical Genetics Services
- Phenotypes
-
- Immunodeficiency-centromeric instability-facial anomalies syndrome 1 MIM# 242860
- facial dysmorphic features
- flat nasal bridge
- developmental delay
- macroglossia
- bacterial/opportunistic infections (recurrent)
- malabsorption
- cytopaenia
- malignancies
- multiradial configurations of chromosomes 1, 9, 16
- Hypogammaglobulinaemia
- agammaglobulinaemia
- variable antibody deficiency
- decreased immunoglobulin production
- low T/B/NK cells
- Tags
- OMIM
- 602900
- Clinvar variants
- Variants in DNMT3B
- Penetrance
- None
- Publications
- Panels with this gene
-
- BabyScreen+ newborn screening
- Prepair 500+
- Intellectual disability syndromic and non-syndromic
- Growth failure
- Predominantly Antibody Deficiency
- Mackenzie's Mission_Reproductive Carrier Screening
- Combined Immunodeficiency
- Limb-Girdle Muscular Dystrophy and Distal Myopathy
- Chromosome Breakage Disorders
- Fetal anomalies
- Clefting disorders
- Additional findings_Paediatric
- Prepair 1000+
- Mendeliome
History Filter Activity
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag treatable tag was added to gene: DNMT3B.
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: dnmt3b has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: DNMT3B were changed from to Immunodeficiency-centromeric instability-facial anomalies syndrome 1 MIM# 242860; facial dysmorphic features; flat nasal bridge; developmental delay; macroglossia; bacterial/opportunistic infections (recurrent); malabsorption; cytopaenia; malignancies; multiradial configurations of chromosomes 1, 9, 16; Hypogammaglobulinaemia; agammaglobulinaemia; variable antibody deficiency; decreased immunoglobulin production; low T/B/NK cells
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: DNMT3B were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: DNMT3B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: DNMT3B was added gene: DNMT3B was added to Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: DNMT3B was set to Unknown