Hereditary Neuropathy_CMT - isolated
Gene: LRSAM1
Dominant CMT2P is usually characterized by relatively mild, slowly progressive axonal neuropathy, mainly involving lower limbs, with age of onset between the second and fifth decades of life. Variants tightly cluster in the C-terminal RING domain. This domain is crucial for the ubiquitination function of LRSAM1 and CMT mutations disrupt its function. Dominant negative effect postulated.
Note only one family reported with recessive inheritance, LoF postulated.Created: 6 May 2021, 11:27 p.m. | Last Modified: 6 May 2021, 11:27 p.m.
Panel Version: 0.119
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Charcot-Marie-Tooth disease, axonal, type 2P, MIM# 614436; MONDO:0013753
Publications
Gene: lrsam1 has been classified as Green List (High Evidence).
Phenotypes for gene: LRSAM1 were changed from Charcot Marie Toothe disease, axonal, type 2P, 614436; HMSN to Charcot-Marie-Tooth disease, axonal, type 2P, MIM# 614436; MONDO:0013753; HMSN
Publications for gene: LRSAM1 were set to
gene: LRSAM1 was added gene: LRSAM1 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: LRSAM1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: LRSAM1 were set to Charcot Marie Toothe disease, axonal, type 2P, 614436; HMSN