DNMT3B

DNA methyltransferase 3 beta
OMIM: 602900, ClinGen, DECIPHER

14 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 14 panels
Green DNMT3B in Chromosome Breakage Disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Immunodeficiency-centromeric instability-facial anomalies syndrome 1, MIM# 242860 Tags treatable
Green DNMT3B in Mendeliome Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green 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 treatable
Green DNMT3B in Predominantly Antibody Deficiency Level 2: Immunological disorders Version 2.0	2 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Expert Review Green Victorian Clinical Genetics Services Tags treatable
Green DNMT3B in Combined Immunodeficiency Level 2: Immunological disorders Version 2.0	1 review	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 treatable
Green DNMT3B in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes immunodeficiency-centromeric instability-facial anomalies syndrome 1 MONDO:0009454
Amber DNMT3B in Limb-Girdle Muscular Dystrophy and Distal Myopathy Level 2: Neurology and neurodevelopmental disorders Version 2.0	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Expert Review Green Victorian Clinical Genetics Services Phenotypes Facioscapulohumeral muscular dystrophy MONDO:0001347
Green DNMT3B in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Immunodeficiency-centromeric instability-facial anomalies syndrome 1, 242860 (3)
Green DNMT3B in Additional findings_Paediatric Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Immunodeficiency-centromeric instability-facial anomalies syndrome 1
Red DNMT3B in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Immunodeficiency-centromeric instability-facial anomalies syndrome 1, 267000
Green DNMT3B in Growth failure Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Immunodeficiency-centromeric instability-facial anomalies syndrome 1, MIM# 242860
Green DNMT3B in Fetal anomalies Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Immunodeficiency-centromeric instability-facial anomalies syndrome 1, MIM# 242860
Green DNMT3B in Prepair 1000+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Immunodeficiency-centromeric instability-facial anomalies syndrome 1, 242860 (3)
Green DNMT3B in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category A gene Phenotypes Immunodeficiency-centromeric instability-facial anomalies syndrome 1, MIM# 242860 Tags treatable immunological
Green DNMT3B in Prepair 500+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (MIM#242860)