Sarcoma susceptibility
Gene: EXT1EnsemblGeneIds (GRCh38): ENSG00000182197
EnsemblGeneIds (GRCh37): ENSG00000182197
OMIM: 608177, Gene2Phenotype
EXT1 is in 16 panels
3 reviews
Arina Puzriakova (Genomics England Curator)
Comment on phenotypes: This gene is also associated with Exostoses, multiple, type 1 (MIM# 133700)Created: 11 Mar 2021, 10:02 a.m. | Last Modified: 11 Mar 2021, 10:02 a.m.
Panel Version: 1.12
Rebecca Foulger (Genomics England curator)
As discussed at the Genomics Cancer Panel Workshop, 16th July 2019: agreed that there is enough evidence to rate EXT1 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, 3:21 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Chondrosarcoma, OMIM:215300
- Chondrosarcoma (disease), MONDO:0008977
- OMIM
- 608177
- Clinvar variants
- Variants in EXT1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Multiple exostoses
- Kleine-Levin syndrome
- 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
- Paroxysmal central nervous system disorders
- Undiagnosed metabolic disorders
- Skeletal dysplasia
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: EXT1 were changed from Chondrosarcoma 215300 to Chondrosarcoma, OMIM:215300; Chondrosarcoma (disease), MONDO:0008977
Entity classified by Genomics England curator
Rebecca Foulger (Genomics England curator)Gene: ext1 has been classified as Green List (High Evidence).
Added New Source, Status Update
Rebecca Foulger (Genomics England curator)Source NHS GMS was added to EXT1. Rating Changed from No List (delete) to Red List (low evidence)
Clear Sources
Rebecca Foulger (Genomics England curator)All sources for gene: EXT1 were removed
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: EXT1 was added gene: EXT1 was added to Sarcoma susceptibility. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: EXT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: EXT1 were set to 23770606; 29529714; 10441575 Phenotypes for gene: EXT1 were set to Chondrosarcoma 215300