DNMT3A

DNA methyltransferase 3 alpha
OMIM: 602769, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Amber DNMT3A in Skeletal Dysplasia_Fetal Level 2: Skeletal disorders Version 0.239	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Heyn-Sproul-Jackson syndrome, MIM# 618724
Red DNMT3A in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 1.400	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Heyn-Sproul-Jackson syndrome, MIM#618724 Tatton-Brown-Rahman syndrome, MIM#615879
Green DNMT3A in Macrocephaly_Megalencephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 0.151	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Tatton-Brown-Rahman syndrome, OMIM# 615879
Green DNMT3A in Mendeliome Version 1.3512	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Tatton-Brown-Rahman syndrome, MIM# 615879 Heyn-Sproul-Jackson syndrome, MIM# 618724
Green DNMT3A in Microcephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 1.357	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes intellectual disability microcephaly short stature
Green DNMT3A in Overgrowth Level 2: Dysmorphic and congenital abnormality syndromes Version 1.16	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Tatton-Brown-Rahman syndrome, OMIM# 615879
Green DNMT3A in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.410	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Tatton-Brown-Rahman syndrome, MIM#615879 primordial dwarfism with intellectual disability and microcephaly
Green DNMT3A in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.346	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Expert list NHS GMS Phenotypes Heyn-Sproul-Jackson syndrome, MIM# 618724
Green DNMT3A in Fetal anomalies Version 1.465	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Literature Genetic Health Queensland Phenotypes Tatton-Brown-Rahman syndrome, MIM# 615879 Heyn-Sproul-Jackson syndrome, MIM# 618724