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Skeletal dysplasia

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, 11:07 a.m. | Last Modified: 6 Jan 2020, 11:07 a.m.
Panel Version: 0.685

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Tatton-Brown-Rahman syndrome, MIM# 615879; Heyn-Sproul-Jackson syndrome, MIM# 618724

Publications

Mode of pathogenicity
Other

Sue White (Victorian Clinical Genetics Services)

Green List (high evidence)

2 allelic syndromes:
1) TATTON-BROWN-RAHMAN SYNDROME, OMIM# 615879
2) heterozygous GOF variants cause primordial dwarfism with intellectual disability and microcephaly, PMID 30478443
Created: 6 Jan 2020, 9:52 a.m. | Last Modified: 6 Jan 2020, 9:52 a.m.
Panel Version: 0.3

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Tatton-Brown-Rahman syndrome 615879
OMIM
602769
Clinvar variants
Variants in DNMT3A
Penetrance
None
Panels with this gene

History Filter Activity

17 Dec 2019, 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 Skeletal dysplasia. Sources: NHS GMS,Expert list,Expert Review Green Mode of inheritance for gene: DNMT3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: DNMT3A were set to Tatton-Brown-Rahman syndrome 615879