Motor Neurone Disease
STR: LRP12-ALS_CGG
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: LiteratureCreated: 11 Jul 2023, 3:48 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Amyotrophic lateral sclerosis MONDO:0004976
Publications
Clinically RelevantInterruptions in the repeated sequence are reported as part of standard diagnostic practise
Str: lrp12-als_cgg has been classified as Green List (High Evidence).
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
Str: lrp12-als_cgg has been classified as Green List (High Evidence).
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