SIGMAR1

sigma non-opioid intracellular receptor 1
OMIM: 601978, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green SIGMAR1 in Motor Neurone Disease


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

3 reviews Unknown
Sources
  • Expert Review Green
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green SIGMAR1 in Mendeliome


Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Amyotrophic lateral sclerosis 16, juvenile 614373
  • ?Spinal muscular atrophy, distal, autosomal recessive, 2 605726
  • distal hereditary motor neuropathy of Jerash type (HMNJ)

Green SIGMAR1 in Hereditary Neuropathy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
  • Expert Review Green
Phenotypes
  • ?Distal spinal muscular atrophy, autosomal recessive 2
  • dHMN/dSMA
  • Distal hereditary motor neuropathy of Jerash type (HMNJ)