Sarcoma susceptibility

Gene: EXT2

Green List (high evidence)

EXT2 (exostosin glycosyltransferase 2)
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)

Green List (high evidence)

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.

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