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| Sarcoma susceptibility v1.13 | EXT2 | Arina Puzriakova Added comment: Comment on phenotypes: Biallelic variants in this gene are associated with Seizures, scoliosis, and macrocephaly syndrome (MIM# 616682) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma susceptibility v1.13 | EXT2 | Arina Puzriakova Phenotypes for gene: EXT2 were changed from Exostoses, multiple, type 2 to Exostoses, multiple, type 2, OMIM:133701; Exostoses, multiple, type 2, MONDO:0007586 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma susceptibility v1.11 | EXT2 | Arina Puzriakova Source: Expert Review Amber was removed from gene: EXT2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma susceptibility v0.2 | EXT2 | Rebecca Foulger reviewed gene: EXT2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma susceptibility v0.0 | EXT2 |
Rebecca Foulger 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 |
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