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| White matter disorders and cerebral calcification - narrow panel v1.18 | USP18 | Arina Puzriakova commented on gene: USP18: Added 'treatable' tag as clinical remission was achieved in a patient following rapid genetic diagnosis and subsequent treatment with the JAK inhibitor ruxolitinib | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v1.18 | USP18 | Arina Puzriakova reviewed gene: USP18: Rating: GREEN; Mode of pathogenicity: None; Publications: 12833411, 27325888, 31940699; Phenotypes: Pseudo-TORCH syndrome 2, 617397; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v1.18 | USP18 | Arina Puzriakova Publications for gene: USP18 were set to PMID: 27325888 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v1.17 | USP18 | Arina Puzriakova Phenotypes for gene: USP18 were changed from pseudo-TORCH syndrome to Pseudo-TORCH syndrome 2, 617397 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v1.16 | USP18 | Arina Puzriakova Tag treatable tag was added to gene: USP18. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v0.11 | USP18 |
Ellen McDonagh gene: USP18 was added gene: USP18 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: USP18 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: USP18 were set to PMID: 27325888 Phenotypes for gene: USP18 were set to pseudo-TORCH syndrome |
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