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Skeletal Dysplasia_Fetal

Gene: DNMT3A

Amber List (moderate 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)

I don't know

Predominantly growth failure rather than skeletal abnormalities.
Created: 26 Oct 2022, 7:59 a.m. | Last Modified: 26 Oct 2022, 7:59 a.m.
Panel Version: 0.150

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Heyn-Sproul-Jackson syndrome, MIM# 618724

Created: 26 Oct 2022, 7:59 a.m.
Last Modified: 26 Oct 2022, 7:59 a.m.
Panel version: 0.150

Krithika Murali (Victorian Clinical Genetics Services)

I don't know

Two allelic syndromes, with LOF variants causing an overgrowth syndrome, and GOF variants causimg a primordial dwarfism syndrome.

The primordial dwarfism phenotype is associated with proportionate IUGR antenatally with more evident postnatal growth failure and microcephaly.
Sources: Literature
Created: 25 Oct 2022, 5:59 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

Created: 25 Oct 2022, 5:59 a.m.

Panel version: 0.150

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Heyn-Sproul-Jackson syndrome, MIM# 618724
OMIM
602769
Clinvar variants
Variants in DNMT3A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Oct 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dnmt3a has been classified as Amber List (Moderate Evidence).

26 Oct 2022, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DNMT3A were changed from to Heyn-Sproul-Jackson syndrome, MIM# 618724

26 Oct 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dnmt3a has been classified as Amber List (Moderate Evidence).

25 Oct 2022, Gel status: 0

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

Krithika Murali (Victorian Clinical Genetics Services)

gene: DNMT3A was added gene: DNMT3A was added to Skeletal Dysplasia_Fetal. Sources: Literature Mode of inheritance for gene: DNMT3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DNMT3A were set to 30478443 Review for gene: DNMT3A was set to AMBER