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| Motor Neurone Disease v0.192 | LRP12-ALS_CGG | Zornitza Stark Marked STR: LRP12-ALS_CGG as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.192 | LRP12-ALS_CGG | Zornitza Stark Str: lrp12-als_cgg has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.192 | LRP12-ALS_CGG | Zornitza Stark Phenotypes for STR: LRP12-ALS_CGG were changed from Amyotrophic lateral sclerosis MONDO:0004976 to Amyotrophic lateral sclerosis MONDO:0004976; Amyotrophic lateral sclerosis 28, MIM# 620452 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.191 | LRP12-ALS_CGG | Bryony Thompson Classified STR: LRP12-ALS_CGG as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.191 | LRP12-ALS_CGG | Bryony Thompson Str: lrp12-als_cgg has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.190 | LRP12-ALS_CGG |
Bryony Thompson STR: LRP12-ALS_CGG was added STR: LRP12-ALS_CGG was added to Motor Neurone Disease. Sources: Literature Mode of inheritance for STR: LRP12-ALS_CGG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: LRP12-ALS_CGG were set to 37339631 Phenotypes for STR: LRP12-ALS_CGG were set to Amyotrophic lateral sclerosis MONDO:0004976 Review for STR: LRP12-ALS_CGG was set to GREEN STR: LRP12-ALS_CGG was marked as clinically relevant Added comment: The CGG repeat expansion in the 5’UTR of LRP12 was identified in 5 ALS families and 2 simplex cases. 61-100 repeats associated with ALS, whereas >100 repeats causes OPDM. Toxic gain-of-function is the mechanism of disease. Authors’ suggest the differences in the levels of toxic RNA and MBNL1 dysfunction, in turn dependent on repeat length, may determine whether the affected individual develops ALS or OPDM. Sources: Literature |
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