Inherited non-medullary thyroid cancer
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
3 reviews
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: 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, 12:19 p.m.
Emma Woodward (Manchester Centre for Genomic Medicine)
Not aware of evidence linking germline alterations of DIRAS3 to FNMTCCreated: 13 Jun 2017, 1:55 p.m.
Fiona Lalloo (Manchester Centre for Genomic Medicine)
No evidence of clinical associationCreated: 9 Jun 2017, 9:08 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
- Sources
-
- Expert Review Red
- Literature
- Phenotypes
-
- follicular thyroid carcinoma
- Tags
- OMIM
- 605193
- Clinvar variants
- Variants in DIRAS3
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
7 Aug 2017, Gel status: 1
panel promoted to version 1
Sarah Leigh (Genomics England Curator)All genes have been reviewed and the reviews evaluated. 07.08.2017
31 Jul 2017, Gel status: 1
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
18 May 2017, Gel status: 0
Created
Sarah Leigh (Genomics England Curator)DIRAS3 was created by sleigh
18 May 2017, Gel status: 0
Added New Source
Sarah Leigh (Genomics England Curator)DIRAS3 was added to Inherited non-medullary thyroid cancerpanel. Sources: Literature