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Motor Neurone Disease

STR: LRP12-ALS_CGG

Green List (high evidence)
Chromosome: 8
GRCh37 Position: 105601201-105601227
GRCh38 Position: 104588973-104588999
Repeated Sequence: CGG
Normal Number of Repeats: < 50
Pathogenic Number of Repeats: = or > 61

LRP12 (LDL receptor related protein 12)
EnsemblGeneIds (GRCh38): ENSG00000147650
EnsemblGeneIds (GRCh37): ENSG00000147650
LRP12 is in 0 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

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
Created: 11 Jul 2023, 3:48 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Amyotrophic lateral sclerosis MONDO:0004976

Publications

Clinically Relevant

Interruptions in the repeated sequence are reported as part of standard diagnostic practise

Created: 11 Jul 2023, 3:48 a.m.

Panel version: 0.190

Details

Name
LRP12-ALS_CGG
Chromosome
8
GRCh37 Coordinates
105601201-105601227
GRCh38 Coordinates
104588973-104588999
Repeated Sequence
CGG
Normal Number of Repeats: <
50
Pathogenic Number of Repeats: = or >
61
Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Amyotrophic lateral sclerosis MONDO:0004976
  • Amyotrophic lateral sclerosis 28, MIM# 620452
Clinvar variants
Variants in LRP12
Penetrance
None
Publications

History Filter Activity

4 Aug 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Str: lrp12-als_cgg has been classified as Green List (High Evidence).

4 Aug 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

11 Jul 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Str: lrp12-als_cgg has been classified as Green List (High Evidence).

11 Jul 2023, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

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