1. Panels
  2. Hereditary Neuropathy_CMT - isolated
  3. LRSAM1
STRs in panel
Prev Next
Regions in panel
Prev Next

Hereditary Neuropathy_CMT - isolated

Gene: LRSAM1

Green List (high evidence)
LRSAM1 (leucine rich repeat and sterile alpha motif containing 1)
EnsemblGeneIds (GRCh38): ENSG00000148356
EnsemblGeneIds (GRCh37): ENSG00000148356
OMIM: 610933, Gene2Phenotype
LRSAM1 is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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

Created: 6 May 2021, 11:27 p.m.
Last Modified: 6 May 2021, 11:27 p.m.
Panel version: 0.119

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Charcot-Marie-Tooth disease, axonal, type 2P, MIM# 614436
  • MONDO:0013753
  • HMSN
OMIM
610933
Clinvar variants
Variants in LRSAM1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 May 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lrsam1 has been classified as Green List (High Evidence).

6 May 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

6 May 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: LRSAM1 were set to

13 Jan 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

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