Likely inborn error of metabolism - targeted testing not possible
Gene: EXT1The 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
Mode of inheritance for gene EXT1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Source NHS GMS was added to EXT1. Source London North GLH was added to EXT1.
Checked against super panel made up of the panel constituents. Ready to promote to version 1.
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
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