Microcephaly
Gene: DNMT3AEnsemblGeneIds (GRCh38): ENSG00000119772
EnsemblGeneIds (GRCh37): ENSG00000119772
OMIM: 602769, Gene2Phenotype
DNMT3A is in 9 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Comment when marking as ready: Three individuals reported, two with the same de novo missense variant. Postulated to be GOF as opposed to LOF variants in this gene which cause an overgrowth syndrome. Animal model supports pathogenicity.Created: 6 Jan 2020, 10:59 a.m. | Last Modified: 6 Jan 2020, 10:59 a.m.
Panel Version: 0.65
Sue White (Victorian Clinical Genetics Services)
gain of function heterozygous variants cause an microcephaly-primordial short stature-type phenotype with intellectual disability
Sources: LiteratureCreated: 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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- intellectual disability
- microcephaly
- short stature
- OMIM
- 602769
- Clinvar variants
- Variants in DNMT3A
- Penetrance
- Complete
- Publications
- Mode of Pathogenicity
- Other
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: dnmt3a has been classified as Green List (High Evidence).
Set mode of pathogenicity
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of pathogenicity for gene: DNMT3A was changed from None to Other
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: dnmt3a has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Sue White (Victorian Clinical Genetics Services)gene: DNMT3A was added gene: DNMT3A was added to Microcephaly_VCGS. 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 Phenotypes for gene: DNMT3A were set to intellectual disability; microcephaly; short stature Penetrance for gene: DNMT3A were set to Complete gene: DNMT3A was marked as current diagnostic