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Mackenzie's Mission_Reproductive Carrier Screening

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)

Red List (low evidence)

I can only find a single family reported with bi-allelic variants.

Over 30 families reported with dominant disease.

Evidence for recessive disease is limited.
Created: 6 May 2021, 11:31 p.m. | Last Modified: 6 May 2021, 11:31 p.m.
Panel Version: 0.70

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Charcot-Marie-Tooth disease, axonal, type 2P, MIM# 614436; MONDO:0013753

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Charcot-Marie-Toothe disease, axonal, type 2P, 614436 (3)
OMIM
610933
Clinvar variants
Variants in LRSAM1
Penetrance
None
Panels with this gene

History Filter Activity

19 Apr 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: LRSAM1 was added gene: LRSAM1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: LRSAM1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LRSAM1 were set to Charcot-Marie-Toothe disease, axonal, type 2P, 614436 (3)