This Panel is marked as Internal
Genomic imprinting
Gene: DIRAS3
DIRAS3 (DIRAS family GTPase 3)
EnsemblGeneIds (GRCh38): ENSG00000162595
EnsemblGeneIds (GRCh37): ENSG00000162595
OMIM: 605193, Gene2Phenotype
DIRAS3 is in 1 panel
EnsemblGeneIds (GRCh38): ENSG00000162595
EnsemblGeneIds (GRCh37): ENSG00000162595
OMIM: 605193, Gene2Phenotype
DIRAS3 is in 1 panel
1 review
Sarah Leigh (Genomics England Curator)
Circadian expression reported in CircaDB (http://circadb.hogeneschlab.org/human)Created: 22 Dec 2020, 6:10 p.m. | Last Modified: 22 Dec 2020, 6:10 p.m.
Panel Version: 0.26
Imprinted DIRAS3 (ARHI) allele is silenced (first hit) during normal development, the remaining expressed allele is open to somatic genetic (large deletion) or epigenetic events (second hit), early in neoplasia as is likely the case in follicular carcinogenesis (PMID: 15546898)Created: 31 Jul 2017, 12:18 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Phenotypes
follicular thyroid carcinoma
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
- Sources
-
- Literature
- Phenotypes
-
- follicular thyroid carcinoma
- OMIM
- 605193
- Clinvar variants
- Variants in DIRAS3
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
22 Dec 2020, Gel status: 1
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene DIRAS3 were updated from 15546898 to 15546898; 30794780; http://igc.otago.ac.nz/home.html
31 Jul 2017, Gel status: 0
Created
Sarah Leigh (Genomics England Curator)DIRAS3 was created by sleigh
31 Jul 2017, Gel status: 0
Added New Source
Sarah Leigh (Genomics England Curator)DIRAS3 was added to Imprinted Genespanel. Sources: Literature