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LRSAM1

Synonyms
CMT2P, RIFLE, TAL
External resources
Summary
This gene encodes a ring finger protein involved in a variety of functions, including regulation of signaling pathways and cell adhesion, mediation of self-ubiquitylation, and involvement in cargo sorting during receptor endocytosis. Mutations in this gene have been associated with Charcot-Marie-Tooth disease. Multiple transcript variants encoding different isoforms have been identified for this gene.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
9
Likely pathogenic
0
VUS
19,780
Likely benign
12,954
Benign
0

Patient phenotypes

Proportions of phenotypes among 9 patients carrying pathogenic or likely pathogenic variants on LRSAM1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
55.6%
Abnormality of the genitourinary system
22.2%
Abnormality of head or neck
11.1%
Abnormality of the cardiovascular system
11.1%
Abnormality of the eye
11.1%
Abnormality of the musculoskeletal system
11.1%
Growth abnormality
11.1%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the ear
0%
Abnormality of the endocrine system
0%
Abnormality of the immune system
0%
Abnormality of the integument
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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