Genomics England

DNA methyltransferase 3 beta

Panel	Mode of inheritance	Details
Filter panels4 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 242860
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 6.13	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Immunodeficiency-centromeric instability-facial anomalies syndrome 1, 242860, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1
Green in Primary immunodeficiency or monogenic inflammatory bowel disease R-numbers: R15 Signed-off version 5.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Immunodeficiency-centromeric instability-facial anomalies syndrome 1, 242860, Immunodeficiency-centromeric instability-facial anomalies syndrome 1, Immunodeficiency centromeric instability facial anomalies syndrome (ICF), Facial dysmorphic features, developmental delay, macroglossia, bacterial/opportunistic infections, malabsorption, cytopenias, malignancies, multiradial configurations of chromosomes 1, 9, 16, Combined immunodeficiencies with associated or syndromic features