Hereditary neuropathy or pain disorder

Gene: LRP12

Green List (high evidence)

CGG repeat expansion as cause for autosomal dominant inherited neuropathy in 44 Japanese patients
STR only

Created: 14 Nov 2024, 11:21 a.m. | Last Modified: 14 Nov 2024, 11:21 a.m.

Panel Version: 6.131

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
CMT2, HMN

Publications

• 39013564

Mode of pathogenicity
Other

Red List (low evidence)

Apart from the LRP12_CGG variant, no other LRP12 variants have been associated with conditions in OMIM, G2P or Mondo.

Created: 20 Nov 2024, 10:05 a.m. | Last Modified: 20 Nov 2024, 10:05 a.m.

Panel Version: 6.139

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, 2:20 p.m. | Last Modified: 12 Aug 2024, 4:05 p.m.

Panel Version: 5.8

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

• 39013564