Sarcoma susceptibility
Gene: EXT1Comment 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
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
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.
Phenotypes for gene: EXT1 were changed from Chondrosarcoma 215300 to Chondrosarcoma, OMIM:215300; Chondrosarcoma (disease), MONDO:0008977
Gene: ext1 has been classified as Green List (High Evidence).
Source NHS GMS was added to EXT1. Rating Changed from No List (delete) to Red List (low evidence)
All sources for gene: EXT1 were removed
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