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| Ataxia - paediatric v0.283 | UBTF | Zornitza Stark Phenotypes for gene: UBTF were changed from Neurodegeneration, childhood-onset, with brain atrophy MIM#617672 to Neurodegeneration, childhood-onset, with brain atrophy, MIM# 617672; MONDO:0044701 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.219 | UBTF |
Bryony Thompson changed review comment from: Ataxia reported as a feature of the condition in 4 unrelated cases with de novo missense variants. Sources: Expert list; to: Paediatric ataxia reported as a feature of the condition in 4 unrelated cases with de novo missense variants. Sources: Expert list |
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| Ataxia - paediatric v0.219 | UBTF | Bryony Thompson Marked gene: UBTF as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.219 | UBTF | Bryony Thompson Gene: ubtf has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.219 | UBTF | Bryony Thompson Classified gene: UBTF as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.219 | UBTF | Bryony Thompson Gene: ubtf has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.218 | UBTF |
Bryony Thompson gene: UBTF was added gene: UBTF was added to Ataxia - paediatric. Sources: Expert list Mode of inheritance for gene: UBTF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: UBTF were set to 29300972 Phenotypes for gene: UBTF were set to Neurodegeneration, childhood-onset, with brain atrophy MIM#617672 Review for gene: UBTF was set to GREEN Added comment: Ataxia reported as a feature of the condition in 4 unrelated cases with de novo missense variants. Sources: Expert list |
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