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Hereditary neuropathy

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, as it is not NGS validated.
Created: 18 Nov 2024, 5:13 p.m. | Last Modified: 18 Nov 2024, 5:13 p.m.
Panel Version: 1.495
A trinucleotide expansion LRP12_CGG variant has been reported in numerous unrelated Japanese individuals with either Amyotrophic lateral sclerosis 28, OMIM:620452 or Oculopharyngodistal myopathy 1, OMIM:164310 (PMID:39013564; 37339631; 31332380).
Created: 12 Aug 2024, 4:01 p.m. | Last Modified: 12 Aug 2024, 4:01 p.m.
Panel Version: 1.487
Comment on list classification: This STR has not been approved or verified by Genomics England Clinical Team or Rare Disease Analyst, therefore, it can not be rated in PanelApp at present.
Created: 12 Aug 2024, 2:59 p.m. | Last Modified: 12 Aug 2024, 4:07 p.m.
Panel Version: 1.487
Created: 12 Aug 2024, 2:59 p.m.
Last Modified: 12 Aug 2024, 4:07 p.m.
Panel version: 1.487

Alexander Rossor (UCL Institute of Neurology)

Green List (high evidence)

Sources: Literature
Created: 23 Jul 2024, 9:13 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Motor axonal neuropathy

Publications

Created: 23 Jul 2024, 9:13 p.m.

Panel version: 1.480

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
  • Motor axonal neuropathy
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

Sarah Leigh (Genomics England Curator)

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

18 Nov 2024, Gel status: 0

Changed GRCh37, Changed GRCh38

Sarah Leigh (Genomics England Curator)

GRCh37 position for LRP12_CGG was changed from - to 105601201-105601227. GRCh38 position for LRP12_CGG was changed from 104588961-104588999 to 104588973-104588999.

12 Nov 2024, Gel status: 0

Changed STR Name, Removed Source

Arina Puzriakova (Genomics England Curator)

LRP12 was changed to LRP12_CGG Source Literature was removed from STR: LRP12_CGG.

12 Aug 2024, Gel status: 0

Added Tag

Sarah Leigh (Genomics England Curator)

Tag STR tag was added to STR: LRP12.

12 Aug 2024, Gel status: 0

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Str: lrp12 has been removed from the panel.

12 Aug 2024, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for STR: LRP12 were set to 39013564

12 Aug 2024, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Str: lrp12 has been classified as Amber List (Moderate Evidence).

23 Jul 2024, Gel status: 0

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

Alexander Rossor (UCL Institute of Neurology)

STR: LRP12 was added STR: LRP12 was added to Hereditary neuropathy. Sources: Literature Mode of inheritance for STR: LRP12 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: LRP12 were set to 39013564 Phenotypes for STR: LRP12 were set to Motor axonal neuropathy Review for STR: LRP12 was set to GREEN