Sarcoma cancer susceptibility

Gene: EXT1

Amber List (moderate evidence)

EXT1 (exostosin glycosyltransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000182197
EnsemblGeneIds (GRCh37): ENSG00000182197
OMIM: 608177, Gene2Phenotype
EXT1 is in 18 panels

1 review

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

3 Apr 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: EXT1 was added gene: EXT1 was added to Sarcoma cancer susceptibility. Sources: Other,Expert Review Amber Mode of inheritance for gene: EXT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: EXT1 were set to 23770606; 10441575; 29529714 Phenotypes for gene: EXT1 were set to Chondrosarcoma 215300