Cerebral Palsy
Gene: DNMT3AEnsemblGeneIds (GRCh38): ENSG00000119772
EnsemblGeneIds (GRCh37): ENSG00000119772
OMIM: 602769, Gene2Phenotype
DNMT3A is in 9 panels
1 review
Clare van Eyk (University of Adelaide)
2 individuals reported with mono-allelic frameshift deletions in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied.
Sources: LiteratureCreated: 27 May 2024, 5:22 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Heyn-Sproul-Jackson syndrome, MIM#618724; Tatton-Brown-Rahman syndrome, MIM#615879
Publications
- PMID: 38693247
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Phenotypes
-
- Heyn-Sproul-Jackson syndrome, MIM#618724
- Tatton-Brown-Rahman syndrome, MIM#615879
- OMIM
- 602769
- Clinvar variants
- Variants in DNMT3A
- Penetrance
- None
- Publications
-
- PMID: 38693247
- 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 Red List (Low Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: dnmt3a has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Clare van Eyk (University of Adelaide)gene: DNMT3A was added gene: DNMT3A was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: DNMT3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DNMT3A were set to PMID: 38693247 Phenotypes for gene: DNMT3A were set to Heyn-Sproul-Jackson syndrome, MIM#618724; Tatton-Brown-Rahman syndrome, MIM#615879 Review for gene: DNMT3A was set to AMBER