Sarcoma susceptibility
Gene: EXT2
EXT2 (exostosin glycosyltransferase 2)
EnsemblGeneIds (GRCh38): ENSG00000151348
EnsemblGeneIds (GRCh37): ENSG00000151348
OMIM: 608210, Gene2Phenotype
EXT2 is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000151348
EnsemblGeneIds (GRCh37): ENSG00000151348
OMIM: 608210, Gene2Phenotype
EXT2 is in 15 panels
3 reviews
Arina Puzriakova (Genomics England Curator)
Comment on phenotypes: Biallelic variants in this gene are associated with Seizures, scoliosis, and macrocephaly syndrome (MIM# 616682)Created: 11 Mar 2021, 10:03 a.m. | Last Modified: 11 Mar 2021, 10:03 a.m.
Panel Version: 1.13
Rebecca Foulger (Genomics England curator)
As discussed at the Genomics Cancer Panel Workshop, 16th July 2019: agreed that there is enough evidence to rate EXT2 green.Created: 23 Jul 2019, 3:16 p.m. | Last Modified: 23 Jul 2019, 3:16 p.m.
Panel Version: 0.2
Ellen McDonagh (Genomics England Curator)
This gene is Green on the Adult solid tumours for rare disease gene panel (Version 1.21). It was included on a gene list from Clare Turnbull, and so has been added here for review.Created: 3 Apr 2019, 3:22 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- NHS GMS
- Other
- Phenotypes
-
- Exostoses, multiple, type 2, OMIM:133701
- Exostoses, multiple, type 2, MONDO:0007586
- OMIM
- 608210
- Clinvar variants
- Variants in EXT2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Multiple exostoses
- Early onset or syndromic epilepsy
- DDG2P
- Sarcoma cancer susceptibility
- Intellectual disability
- Osteogenesis imperfecta
- Congenital disorders of glycosylation
- Adult solid tumours for rare disease
- Likely inborn error of metabolism
- Sarcoma susceptibility
- Adult solid tumours cancer susceptibility
- Fetal anomalies
- Undiagnosed metabolic disorders
- Skeletal dysplasia
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
11 Mar 2021, Gel status: 3
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: EXT2 were changed from Exostoses, multiple, type 2 to Exostoses, multiple, type 2, OMIM:133701; Exostoses, multiple, type 2, MONDO:0007586
11 Feb 2021, Gel status: 3
Clear Sources
Arina Puzriakova (Genomics England Curator)Source: Expert Review Amber was removed from gene: EXT2
23 Jul 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: EXT2 was added gene: EXT2 was added to Sarcoma susceptibility. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: EXT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: EXT2 were set to 27636706; 7726168; 29529714; 23770606 Phenotypes for gene: EXT2 were set to Exostoses, multiple, type 2