Cytopenias and congenital anaemias
Gene: DNMT3A

DNMT3A (DNA methyltransferase 3 alpha)
EnsemblGeneIds (GRCh38): ENSG00000119772
EnsemblGeneIds (GRCh37): ENSG00000119772
OMIM: 602769, Gene2Phenotype
DNMT3A is in 8 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Somatic variants are associated with aplastic anaemia, as indicated by COSMIC census gene list and PMID: 28107566.
Created: 1 Mar 2017, 2:25 p.m.

Created: 1 Mar 2017, 2:25 p.m.

Panel version: 0.254

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
Unknown

Phenotypes
Myelodysplastic syndrome (MDS), Paediatric

Variants in this GENE are reported as part of current diagnostic practice

Created: 16 Jan 2017, 3:46 p.m.

Panel version: Imported from "Anaemias and red cell disorders" panel version 0.9

Details

Mode of Inheritance

Unknown

Sources

Expert Review Red
BRIDGE consortium (NIHRBR-RD)

Phenotypes

Myelodysplastic syndrome (MDS), Paediatric
acute myeloid leukaemia
aquired aplastic anaemia

Tags

somatic

OMIM

602769

Clinvar variants

Variants in DNMT3A

Penetrance

Complete

Panels with this gene

History Filter Activity

11 Mar 2017, Gel status: 1

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.

1 Mar 2017, Gel status: 1