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  3. SIGMAR1
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Hereditary Neuropathy_CMT - isolated

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

2 reviews

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: 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
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • ?Distal spinal muscular atrophy, autosomal recessive 2
  • dHMN/dSMA
  • Distal hereditary motor neuropathy of Jerash type (HMNJ)
OMIM
601978
Clinvar variants
Variants in SIGMAR1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sigmar1 has been classified as Green List (High Evidence).

20 Apr 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SIGMAR1 were changed from ?Distal spinal muscular atrophy, autosomal recessive 2; dHMN/dSMA to ?Distal spinal muscular atrophy, autosomal recessive 2; dHMN/dSMA; Distal hereditary motor neuropathy of Jerash type (HMNJ)

20 Apr 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SIGMAR1 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: SIGMAR1 was added gene: SIGMAR1 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: SIGMAR1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SIGMAR1 were set to ?Distal spinal muscular atrophy, autosomal recessive 2; dHMN/dSMA