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| Neurodegeneration with brain iron accumulation v0.17 | GTPBP2 | Zornitza Stark Marked gene: GTPBP2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegeneration with brain iron accumulation v0.17 | GTPBP2 | Zornitza Stark Gene: gtpbp2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegeneration with brain iron accumulation v0.17 | GTPBP2 | Zornitza Stark Phenotypes for gene: GTPBP2 were changed from dystonia; ataxia; cognitive dysfunction; motor neuropathy; retinal abnormalities; sparse thin and brittle hair to Jaberi-Elahi syndrome, MIM# 617988 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegeneration with brain iron accumulation v0.16 | GTPBP2 | Zornitza Stark Classified gene: GTPBP2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegeneration with brain iron accumulation v0.16 | GTPBP2 | Zornitza Stark Gene: gtpbp2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegeneration with brain iron accumulation v0.15 | GTPBP2 | Zornitza Stark reviewed gene: GTPBP2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Jaberi-Elahi syndrome, MIM# 617988; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegeneration with brain iron accumulation v0.15 | GTPBP2 |
Shekeeb Mohammad gene: GTPBP2 was added gene: GTPBP2 was added to Neuroferritinopathies. Sources: Literature Mode of inheritance for gene: GTPBP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GTPBP2 were set to 26675814; 29449720 Phenotypes for gene: GTPBP2 were set to dystonia; ataxia; cognitive dysfunction; motor neuropathy; retinal abnormalities; sparse thin and brittle hair Review for gene: GTPBP2 was set to GREEN gene: GTPBP2 was marked as current diagnostic Added comment: Sources: Literature |
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