| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Leukodystrophy - adult onset v0.135 | ITM2B | Bryony Thompson Marked gene: ITM2B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - adult onset v0.135 | ITM2B | Bryony Thompson Gene: itm2b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - adult onset v0.135 | ITM2B | Bryony Thompson Classified gene: ITM2B as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - adult onset v0.135 | ITM2B | Bryony Thompson Gene: itm2b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - adult onset v0.134 | ITM2B |
Bryony Thompson gene: ITM2B was added gene: ITM2B was added to Leukodystrophy - adult onset. Sources: Other Mode of inheritance for gene: ITM2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ITM2B were set to 10775542 Phenotypes for gene: ITM2B were set to ABri amyloidosis MONDO:0008306 Mode of pathogenicity for gene: ITM2B was set to Other Review for gene: ITM2B was set to AMBER Added comment: White matter abnormalities have been reported in 11 at-risk individuals from the original large family reported. Sources: Other |
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