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Congenital disorders of glycosylation v2.92 EXT1 Arina Puzriakova commented on gene: EXT1: 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.
Congenital disorders of glycosylation v2.82 EXT1 Arina Puzriakova commented on gene: EXT1
Congenital disorders of glycosylation v2.81 EXT1 Arina Puzriakova Mode of inheritance for gene EXT1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Congenital disorders of glycosylation v2.66 EXT1 Sarah Leigh changed review comment from: GlyGen link: https://www.glygen.org/protein/Q16394-1#Disease; to: GlyGen link updated April 2021: https://www.glygen.org/protein/Q16394-1#Disease
Congenital disorders of glycosylation v2.66 EXT1 Sarah Leigh changed review comment from: Comment on phenotypes: Also associated with Chondrosarcoma 215300 ; to: Comment on phenotypes: Also associated with Chondrosarcoma 215300
Congenital disorders of glycosylation v2.66 EXT1 Sarah Leigh commented on gene: EXT1: GlyGen link: https://www.glygen.org/protein/Q16394-1#Disease
Congenital disorders of glycosylation v2.0 EXT1 Rebecca Foulger commented on gene: EXT1
Congenital disorders of glycosylation EXT1 Sarah Leigh marked EXT1 as ready
Congenital disorders of glycosylation EXT1 Sarah Leigh commented on EXT1
Congenital disorders of glycosylation EXT1 Daniel Ungar reviewed EXT1