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| Dystonia and Chorea v0.320 | Bryony Thompson Copied gene SPR from panel Dystonia - isolated/combined | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia and Chorea v0.320 | SPR |
Bryony Thompson gene: SPR was added gene: SPR was added to Dystonia - complex. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: SPR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SPR were set to 11443547; 18502672; 22522443; 16532389; 31777525; 29147684; 28189489 Phenotypes for gene: SPR were set to Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, MIM# 612716; MONDO:0012994 |
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| Dystonia and Chorea v0.158 | RNU7-1 |
Paul De Fazio gene: RNU7-1 was added gene: RNU7-1 was added to Dystonia - complex. Sources: Literature Mode of inheritance for gene: RNU7-1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNU7-1 were set to 33230297 Phenotypes for gene: RNU7-1 were set to Aicardi–Goutières syndrome-like Review for gene: RNU7-1 was set to GREEN gene: RNU7-1 was marked as current diagnostic Added comment: Review originally submitted by Ming Wong - 16 affected individuals from 11 families - Compared to control fibroblasts, patient fibroblasts were enriched for misprocessed forms of replication-dependent histone (RDH) mRNAs Sources: Literature |
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