Sarcoma susceptibility

Gene: EXT1

Green List (high evidence)

EXT1 (exostosin glycosyltransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000182197
EnsemblGeneIds (GRCh37): ENSG00000182197
OMIM: 608177, Gene2Phenotype
EXT1 is in 17 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)

Green List (high evidence)

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.

History Filter Activity

11 Mar 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: EXT1 were changed from Chondrosarcoma 215300 to Chondrosarcoma, OMIM:215300; Chondrosarcoma (disease), MONDO:0008977

1 Aug 2019, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: ext1 has been classified as Green List (High Evidence).

1 Aug 2019, Gel status: 1

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)

1 Aug 2019, Gel status: 0

Clear Sources

Rebecca Foulger (Genomics England curator)

All sources for gene: EXT1 were removed

23 Jul 2019, Gel status: 3

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