Genomics England
GMS Panels
Panels
Genes and Entities

DNMT3A

DNA methyltransferase 3 alpha
OMIM: 602769
PanelMode of inheritanceDetails
5 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.79
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Tatton-Brown Rahman syndrome (OVERGROWTH SYNDROME WITH INTELLECTUAL DISABILITY), 615879, Microcephalic primordial dwarfism
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 3.122
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
OVERGROWTH SYNDROME WITH INTELLECTUAL DISABILITY
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.343
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Tatton-Brown-Rahman syndrome OMIM:615879, Heyn-Sproul-Jackson syndrome OMIM:618724, MONDO:0032882
Green
in Severe microcephaly
R-numbers: R88
Signed-off version 4.41
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Heyn-Sproul-Jackson syndrome OMIM:618724, MONDO:0032882
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 4.31
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Tatton-Brown-Rahman syndrome 615879