DNMT3A

DNA methyltransferase 3 alpha
OMIM: 602769, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green DNMT3A in Inherited phaeochromocytoma and paraganglioma excluding NF1 Level 2: Endocrinology Version 3.10 Latest signed off version: v3.0 (7 Aug 2024)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Literature Phenotypes Heyn-Sproul-Jackson syndrome, OMIM:618724
Red DNMT3A in Cytopenias and congenital anaemias Level 3: Anaemias and red cell disorders Level 2: Haematological disorders Version 1.123	review	Unknown	Sources Expert Review Red BRIDGE consortium (NIHRBR-RD) Phenotypes Myelodysplastic syndrome (MDS), Paediatric acute myeloid leukaemia aquired aplastic anaemia Tags somatic
Green DNMT3A in Severe microcephaly Level 2: Neurology Version 8.31 Latest signed off version: v8.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Heyn-Sproul-Jackson syndrome OMIM:618724 MONDO:0032882
Green DNMT3A in Skeletal dysplasia Level 2: Musculoskeletal Version 8.34 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Expert list Phenotypes Tatton-Brown-Rahman syndrome 615879
Green DNMT3A in Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders Level 3: Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders Level 2: Growth disorders Version 1.121	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Research Phenotypes Tatton-Brown-Rahman syndrome, 615879 OVERGROWTH SYNDROME WITH INTELLECTUAL DISABILITY DNMT3A overgrowth syndrome
Green DNMT3A in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green PAGE DD-Gene2Phenotype Phenotypes OVERGROWTH SYNDROME WITH INTELLECTUAL DISABILITY
Green DNMT3A in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green DD-Gene2Phenotype Phenotypes Tatton-Brown Rahman syndrome (OVERGROWTH SYNDROME WITH INTELLECTUAL DISABILITY), 615879 Microcephalic primordial dwarfism
Green DNMT3A in Intellectual disability Level 2: Developmental disorders Version 9.285 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Tatton-Brown-Rahman syndrome OMIM:615879 Heyn-Sproul-Jackson syndrome OMIM:618724 MONDO:0032882