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  3. LRP12
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Hereditary neuropathy

Gene: LRP12

Amber List (moderate evidence)
LRP12 (LDL receptor related protein 12)
EnsemblGeneIds (GRCh38): ENSG00000147650
EnsemblGeneIds (GRCh37): ENSG00000147650
LRP12 is in 2 panels

3 reviews

Dmitrijs Rots (Children's Clinical University Hospital)

Red List (low evidence)

Should this be LRP12_CGG? otherwise - currently would target the coding sequence and not the repeat expansion.
Created: 16 Nov 2024, 1:36 p.m. | Last Modified: 16 Nov 2024, 1:36 p.m.
Panel Version: 1.493
Created: 16 Nov 2024, 1:36 p.m.
Last Modified: 16 Nov 2024, 1:36 p.m.
Panel version: 1.493

Sarah Leigh (Genomics England Curator)

I don't know

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).
This STR has not been approved or verified by Genomics England Clinical Team or Rare Disease Analyst, therefore, it can not be added to PanelApp at present.
Created: 12 Aug 2024, 2:59 p.m. | Last Modified: 12 Aug 2024, 4:04 p.m.
Panel Version: 1.487
Created: 12 Aug 2024, 2:59 p.m.
Last Modified: 12 Aug 2024, 4:04 p.m.
Panel version: 1.487

Alexander Rossor (UCL Institute of Neurology)

Green List (high evidence)

Trinucleotide repeat expansion, 44 patients with neuropathy in Japanese cohort
Sources: Literature
Created: 23 Jul 2024, 8:55 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Motor axonal neuropathy

Publications

Created: 23 Jul 2024, 8:55 p.m.

Panel version: 1.480

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Motor axonal neuropathy
Tags
STR
Clinvar variants
Variants in LRP12
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Aug 2024, Gel status: 2

Added Tag

Sarah Leigh (Genomics England Curator)

Tag STR tag was added to gene: LRP12.

12 Aug 2024, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: LRP12 were set to 39013564

12 Aug 2024, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: 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)

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