Paediatric motor neuronopathies

Gene: SIGMAR1

Red List (low evidence)

SIGMAR1 (sigma non-opioid intracellular receptor 1)
EnsemblGeneIds (GRCh38): ENSG00000147955
EnsemblGeneIds (GRCh37): ENSG00000147955
OMIM: 601978, Gene2Phenotype
SIGMAR1 is in 8 panels

2 reviews

Pinki Munot (Consultant )

Red List (low evidence)

Juvenile ALS reported only in 1 family and distal SMA in another Chinese
Created: 2 Mar 2017, 7:41 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Alice Gardham (Genomics England)

Red List (low evidence)

Mutations only identified in one family
Created: 18 Jan 2017, 4:25 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Amyotrophic lateral sclerosis 16, juvenile 614373

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • ?Amyotrophic lateral sclerosis 16, juvenile 614373
OMIM
601978
Clinvar variants
Variants in SIGMAR1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

7 Mar 2017, Gel status: 1

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Gene panel promoted to v1 on 7 March 2017 following external review and internal curation

18 Jan 2017, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

18 Jan 2017, Gel status: 1

Added New Source

Alice Gardham (Genomics England)

SIGMAR1 was added to Paediatric motor neuronopathiespanel. Sources: Literature,Radboud University Medical Center, Nijmegen

18 Jan 2017, Gel status: 0

Created

Alice Gardham (Genomics England)

SIGMAR1 was created by agardham