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.
Arina Puzriakova Mode of inheritance for gene EXT1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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
Sarah Leigh changed review comment from: Comment on phenotypes: Also associated with Chondrosarcoma 215300 ; to: Comment on phenotypes: Also associated with Chondrosarcoma 215300