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Motor Neurone Disease

Gene: SIGMAR1

Green List (high evidence)
SIGMAR1 (sigma non-opioid intracellular receptor 1)
EnsemblGeneIds (GRCh38): ENSG00000147955
EnsemblGeneIds (GRCh37): ENSG00000147955
OMIM: 601978, Gene2Phenotype
SIGMAR1 is in 3 panels

3 reviews

Sangavi Sivagnanasundram (Melbourne Health)

I don't know

PMID: 26078401
3 affected siblings from one consanguineous family with progressive distal wasting and lower limb weakness and homozygous mutation in SIGMAR1.
HEK293 cell in vitro functional study showed a reduction in protein levels due to increased proteasomal degradation through the ERAD (endoplasmic reticulum-associated degradation).
Created: 18 May 2023, 3:33 a.m. | Last Modified: 18 May 2023, 3:33 a.m.
Panel Version: 0.138

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Spinal muscular atrophy, distal, autosomal recessive, 2 (MIM#605726)

Publications

Created: 18 May 2023, 3:33 a.m.
Last Modified: 18 May 2023, 3:33 a.m.
Panel version: 0.138

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

PMID: 31511340: - N167I (1 het in gnomAD): in 7 consanguinous families from region of Jordan with a specific type of distal hereditary motor neuropathy of Jerash type (HMNJ). Experiments show loss of function effect. - Lists recent publications with other variants (missense and truncating) in patients with distal hereditary motor neuropathy (dHMN) with mild pyramidal signs and jALS (juvenile ALS)
Created: 20 Apr 2020, 10:43 a.m. | Last Modified: 20 Apr 2020, 10:43 a.m.
Panel Version: 0.29

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Distal hereditary motor neuropathy of Jerash type (HMNJ)

Publications

Created: 20 Apr 2020, 10:43 a.m.
Last Modified: 20 Apr 2020, 10:43 a.m.
Panel version: Imported from Mendeliome panel version Imported from Hereditary Neuropathy_CMT - isolated panel version 0.29

Michelle Torres (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 31511340:
- N167I (1 het in gnomAD): in 7 consanguinous families from region of Jordan with a specific type of distal hereditary motor neuropathy of Jerash type (HMNJ). Experiments show loss of function effect.
- Lists recent publications with other variants (missense and truncating) in patients with distal hereditary motor neuropathy (dHMN) with mild pyramidal signs and jALS (juvenile ALS)
Created: 20 Apr 2020, 4:52 a.m. | Last Modified: 20 Apr 2020, 4:59 a.m.
Panel Version: 0.2395

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Amyotrophic lateral sclerosis 16, juvenile 614373; ?Spinal muscular atrophy, distal, autosomal recessive, 2 605726; distal hereditary motor neuropathy of Jerash type (HMNJ)

Publications

Created: 20 Apr 2020, 4:52 a.m.
Last Modified: 20 Apr 2020, 4:59 a.m.
Panel version: Imported from Mendeliome panel version 0.2392

Details

Mode of Inheritance
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
OMIM
601978
Clinvar variants
Variants in SIGMAR1
Penetrance
None
Panels with this gene

History Filter Activity

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SIGMAR1 was added gene: SIGMAR1 was added to Motor neuron disease MND_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Complex Neurology Flagship Mode of inheritance for gene: SIGMAR1 was set to Unknown