1. Panels
  2. Likely inborn error of metabolism
  3. EXT1
Genes in panel
Prev Next

Likely inborn error of metabolism

Gene: EXT1

Green List (high evidence)
EXT1 (exostosin glycosyltransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000182197
EnsemblGeneIds (GRCh37): ENSG00000182197
OMIM: 608177, Gene2Phenotype
EXT1 is in 16 panels

1 review

Arina Puzriakova (Genomics England Curator)

The recent MOI update on this panel was done following an audit of genes with different MOIs on component panels of the same superpanel. These were reviewed by the curation team accounting for respective panel scope and final MOIs were validated by the Genomics England clinical team.
Created: 3 Aug 2022, 3:27 p.m. | Last Modified: 3 Aug 2022, 3:27 p.m.
Panel Version: 2.263
The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 9 Mar 2022, 11:59 a.m. | Last Modified: 9 Mar 2022, 11:59 a.m.
Panel Version: 2.225
Created: 9 Mar 2022, 11:59 a.m.
Last Modified: 9 Mar 2022, 11:59 a.m.
Panel version: 2.263

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Multiple exostoses type I (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies)
  • Exostoses, multiple, type 1 133700
OMIM
608177
Clinvar variants
Variants in EXT1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Mar 2022, Gel status: 3

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene EXT1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to EXT1. Source London North GLH was added to EXT1.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1.

16 Dec 2018, Gel status: 4

Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Added phenotypes Multiple exostoses type I (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies); Exostoses, multiple, type 1 133700 for gene: EXT1 Publications for gene EXT1 were changed from 12417417 to 27604308

16 Dec 2018, Gel status: 4

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 Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: EXT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EXT1 were set to 12417417 Phenotypes for gene: EXT1 were set to Multiple exostoses type I (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies); Exostoses, multiple, type 1 133700