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  3. DNMT3A
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Fetal anomalies

Gene: DNMT3A

Green List (high evidence)
DNMT3A (DNA methyltransferase 3 alpha)
EnsemblGeneIds (GRCh38): ENSG00000119772
EnsemblGeneIds (GRCh37): ENSG00000119772
OMIM: 602769, Gene2Phenotype
DNMT3A is in 9 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Two allelic syndromes, with LOF variants causing an overgrowth syndrome, and GOF variants causimg a primordial dwarfism syndrome.
Created: 6 Jan 2020, 11:02 a.m. | Last Modified: 6 Jan 2020, 11:02 a.m.
Panel Version: 0.1510

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
TATTON-BROWN-RAHMAN SYNDROME, OMIM# 615879; primordial dwarfism with intellectual disability and microcephaly

Publications

Mode of pathogenicity
Other

Created: 6 Jan 2020, 11:02 a.m.
Last Modified: 6 Jan 2020, 11:02 a.m.
Panel version: Imported from Intellectual disability syndromic and non-syndromic panel version 0.1510

Sue White (Victorian Clinical Genetics Services)

gain of function heterozygous variants cause an microcephaly-primordial short stature-type phenotype with intellectual disability
Sources: Literature
Created: 6 Jan 2020, 9:43 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
intellectual disability; microcephaly; short stature

Publications

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

Created: 6 Jan 2020, 9:43 a.m.

Panel version: Imported from Microcephaly panel version 0.60

Details

Mode of Inheritance
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
OMIM
602769
Clinvar variants
Variants in DNMT3A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Dec 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dnmt3a has been classified as Green List (High Evidence).

6 Dec 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DNMT3A were changed from OVERGROWTH SYNDROME WITH INTELLECTUAL DISABILITY to Tatton-Brown-Rahman syndrome, MIM# 615879; Heyn-Sproul-Jackson syndrome, MIM# 618724

6 Dec 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DNMT3A were set to

6 Dec 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: DNMT3A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

24 Oct 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DNMT3A was added gene: DNMT3A was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: DNMT3A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: DNMT3A were set to OVERGROWTH SYNDROME WITH INTELLECTUAL DISABILITY