Clefting disorders
Gene: DNMT3B
DNMT3B (DNA methyltransferase 3 beta)
EnsemblGeneIds (GRCh38): ENSG00000088305
EnsemblGeneIds (GRCh37): ENSG00000088305
OMIM: 602900, Gene2Phenotype
DNMT3B is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000088305
EnsemblGeneIds (GRCh37): ENSG00000088305
OMIM: 602900, Gene2Phenotype
DNMT3B is in 14 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Expert list
- Phenotypes
-
- Immunodeficiency-centromeric instability-facial anomalies syndrome 1, 267000
- 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
16 Sep 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: DNMT3B was added gene: DNMT3B was added to Clefting_GEL. Sources: Expert list,Expert Review Red Mode of inheritance for gene: DNMT3B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNMT3B were set to 17893117; 23486536 Phenotypes for gene: DNMT3B were set to Immunodeficiency-centromeric instability-facial anomalies syndrome 1, 267000