Adult onset neurodegenerative disorder
Gene: LRSAM1

LRSAM1 (leucine rich repeat and sterile alpha motif containing 1)
EnsemblGeneIds (GRCh38): ENSG00000148356
EnsemblGeneIds (GRCh37): ENSG00000148356
OMIM: 610933, Gene2Phenotype
LRSAM1 is in 3 panels

1 review

Oliver Ziff (University College London)

Green List (high evidence)

Causes CMT2P with marked motor features out of proportion to sensory loss, presenting as an PMA mimic. Needs inclusion in R460.1 to avoid R78 reanalysis.
Sources: Literature, Expert Review
Created: 22 May 2026, 1:48 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Charcot Marie Toothe disease, axonal, type 2P, 614436

Publications

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Variants in this GENE are reported as part of current diagnostic practice

Created: 22 May 2026, 1:48 p.m.

Panel version: 9.1

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Phenotypes

Charcot Marie Toothe disease, axonal, type 2P, 614436

OMIM

610933

Clinvar variants

Variants in LRSAM1

Penetrance

Complete

Publications

Mode of Pathogenicity

Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Panels with this gene

History Filter Activity

22 May 2026, Gel status: 0

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

Oliver Ziff (University College London)

gene: LRSAM1 was added gene: LRSAM1 was added to Adult onset neurodegenerative disorder. Sources: Literature,Expert Review Mode of inheritance for gene: LRSAM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LRSAM1 were set to 22781092; 28335037 Phenotypes for gene: LRSAM1 were set to Charcot Marie Toothe disease, axonal, type 2P, 614436 Penetrance for gene: LRSAM1 were set to Complete Mode of pathogenicity for gene: LRSAM1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: LRSAM1 was set to GREEN gene: LRSAM1 was marked as current diagnostic

Adult onset neurodegenerative disorder Gene: LRSAM1