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  3. LRP12_CGG
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Hereditary neuropathy or pain disorder

STR: LRP12_CGG

Amber List (moderate evidence)
Chromosome: 8
GRCh37 Position: 105601201-105601227
GRCh38 Position: 104588973-104588999
Repeated Sequence: CGG
Normal Number of Repeats: < 28
Pathogenic Number of Repeats: = or > 50

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

2 reviews

Sarah Leigh (Genomics England Curator)

Comment on list classification: This STR is rated as amber, because it is not yet NGS validated.
Created: 18 Nov 2024, 5:21 p.m. | Last Modified: 18 Nov 2024, 5:21 p.m.
Panel Version: 6.138
Created: 18 Nov 2024, 5:21 p.m.
Last Modified: 18 Nov 2024, 5:21 p.m.
Panel version: 6.138

Christopher Record (UCL Queen Square Institute of Neurology)

Green List (high evidence)

CGG repeat expansion as cause for autosomal dominant inherited neuropathy in 44 Japanese patients
STR only
Sources: Literature
Created: 14 Nov 2024, 12:44 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
CMT2, HMN

Publications

Created: 14 Nov 2024, 12:44 p.m.

Panel version: 6.131

Details

Name
LRP12_CGG
Chromosome
8
GRCh37 Coordinates
105601201-105601227
GRCh38 Coordinates
104588973-104588999
Repeated Sequence
CGG
Normal Number of Repeats: <
28
Pathogenic Number of Repeats: = or >
50
Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • CMT2, HMN
Tags
STR NGS Not Validated
Clinvar variants
Variants in LRP12
Penetrance
None
Publications

History Filter Activity

18 Nov 2024, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Str: lrp12_cgg has been classified as Amber List (Moderate Evidence).

18 Nov 2024, Gel status: 0

Added Tag, Added Tag

Sarah Leigh (Genomics England Curator)

Tag STR tag was added to STR: LRP12_CGG. Tag NGS Not Validated tag was added to STR: LRP12_CGG.

14 Nov 2024, Gel status: 0

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

Christopher Record (UCL Queen Square Institute of Neurology)

STR: LRP12_CGG was added STR: LRP12_CGG was added to Hereditary neuropathy or pain disorder. Sources: Literature Mode of inheritance for STR: LRP12_CGG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: LRP12_CGG were set to 39013564 Phenotypes for STR: LRP12_CGG were set to CMT2, HMN Review for STR: LRP12_CGG was set to GREEN