LRSAM1

leucine rich repeat and sterile alpha motif containing 1
OMIM: 610933, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green LRSAM1 in Mendeliome


Version 2.0

1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Charcot-Marie-Tooth disease, axonal, type 2P, MIM# 614436
  • MONDO:0013753

Green LRSAM1 in Hereditary Neuropathy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
  • Expert Review Green
Phenotypes
  • Charcot-Marie-Tooth disease, axonal, type 2P, MIM# 614436
  • MONDO:0013753
  • HMSN

Green LRSAM1 in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 1.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Charcot-Marie-Toothe disease, axonal, type 2P, 614436 (3)

Green LRSAM1 in Additional findings_Paediatric


Level 2: Screening
Version 1.0

0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Charcot-Marie-Tooth disease

Amber LRSAM1 in Prepair 1000+


Level 2: Screening
Version 3.0

3 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Mackenzie's Mission
Phenotypes
  • Charcot-Marie-Toothe disease, axonal, type 2P, 614436 (3)

Red LRSAM1 in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • BabySeq Category A gene
Phenotypes
  • Charcot-Marie-Tooth disease, axonal, type 2P, MIM# 614436