Genes in panel

Hereditary neuropathy

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 8 panels

5 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Created: 9 May 2019, 5 p.m.

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

Alexander Rossor (UCL Institute of Neurology)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Mary Reilly (Institute of Neurology)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Ellen McDonagh (Genomics England Curator)

Comment on list classification: This gene was added by a reviewer, and rated green by a second reviewer. There has been a commentary regarding whether SIGMARI variants are causal of motor neuron disease.
Created: 9 May 2016, 8:46 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
OMIM
601978
Clinvar variants
Variants in SIGMAR1
Penetrance
Complete
Publications
  • PMID: 26205306 one family report for association with Amyotrophic lateral sclerosis and c.672*31A>G (rs4879809) - the C9ORF72 repeat region in intron 1, previously implicated in a related phenotype, was excluded through linkage, and further confirmation of exclusion was obtained by amplifying intron 1 of C9ORF72 with multiple primers in affected individuals and controls
  • PubMed: 21842496 - E102Q variant identified in a Saudi Arabian family to be associated with amyotrophic lateral sclerosis 16, juvenile
  • PMID: 26088964 is a commentary on PMID: 25678561 raising a lack of evidence for SIGMARI to be pathogenic, and that previous reports of patients with SIGMARI variants were also shown to harbour C9orf72 expansions. PMID: 26088963 - in reply, authors state that there is in vitro and in vivo evidence, and expression evidence, and that a case reported did not have the C9orf72 expansion
  • PMID: 26078401 - c.151+1G>T variant in SIGMARI resulted in a 60 bp deletion in the transcript, and segrated with the distal hereditary motor neuropathy in a Chinese family.
Panels with this gene

History Filter Activity

29 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to SIGMAR1.

29 Apr 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to SIGMAR1. Rating Changed from Green List (high evidence) to Green List (high evidence)

8 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

9 May 2016, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for SIGMAR1 were set to PMID: 26205306 one family report for association with Amyotrophic lateral sclerosis and c.672*31A>G (rs4879809) - the C9ORF72 repeat region in intron 1, previously implicated in a related phenotype, was excluded through linkage, and further confirmation of exclusion was obtained by amplifying intron 1 of C9ORF72 with multiple primers in affected individuals and controls; PubMed: 21842496 - E102Q variant identified in a Saudi Arabian family to be associated with amyotrophic lateral sclerosis 16, juvenile; PMID: 26088964 is a commentary on PMID: 25678561 raising a lack of evidence for SIGMARI to be pathogenic, and that previous reports of patients with SIGMARI variants were also shown to harbour C9orf72 expansions. PMID: 26088963 - in reply, authors state that there is in vitro and in vivo evidence, and expression evidence, and that a case reported did not have the C9orf72 expansion; PMID: 26078401 - c.151+1G>T variant in SIGMARI resulted in a 60 bp deletion in the transcript, and segrated with the distal hereditary motor neuropathy in a Chinese family.

9 May 2016, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for SIGMAR1 were set to PMID: 26205306 one family report for association with Amyotrophic lateral sclerosis and c.672*31A>G (rs4879809) - the C9ORF72 repeat region in intron 1, previously implicated in a related phenotype, was excluded through linkage, and further confirmation of exclusion was obtained by amplifying intron 1 of C9ORF72 with multiple primers in affected individuals and controls; PubMed: 21842496 - E102Q variant identified in a Saudi Arabian family to be associated with amyotrophic lateral sclerosis 16, juvenile. PMID: 26088964 is a commentary on PMID: 25678561 raising a lack of evidence for SIGMARI to be pathogenic, and that previous reports of patients with SIGMARI variants were also shown to harbour C9orf72 expansions. PMID: 26088963 - in reply, authors state that there is in vitro and in vivo evidence, and expression evidence, and that a case reported did not have the C9orf72 expansion. PMID: 26078401 - c.151+1G>T variant in SIGMARI resulted in a 60 bp deletion in the transcript, and segrated with the distal hereditary motor neuropathy in a Chinese family.

9 May 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

9 May 2016, Gel status: 0

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for SIGMAR1 were set to PMID: 26205306 one family report for association with Amyotrophic lateral sclerosis and c.672*31A>G (rs4879809) - the C9ORF72 repeat region in intron 1, previously implicated in a related phenotype, was excluded through linkage, and further confirmation of exclusion was obtained by amplifying intron 1 of C9ORF72 with multiple primers in affected individuals and controls; PubMed: 21842496 - E102Q variant identified in a Saudi Arabian family to be associated with amyotrophic lateral sclerosis 16, juvenile. PMID: 26088964 commentary on PMID: 25678561 raising a lack of evidence for SIGMARI to be pathogenic, and that previous reports of patients with SIGMARI variants were also shown to harbour C9orf72 expansions; PMID: 26078401 - c.151+1G>T variant in SIGMARI resulted in a 60 bp deletion in the transcript, and segrated with the distal hereditary motor neuropathy in a Chinese family.

9 May 2016, Gel status: 0

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for SIGMAR1 were set to PMID: 26205306 one family report for association with Amyotrophic lateral sclerosis and c.672*31A>G (rs4879809) - the C9ORF72 repeat region in intron 1, previously implicated in a related phenotype, was excluded through linkage, and further confirmation of exclusion was obtained by amplifying intron 1 of C9ORF72 with multiple primers in affected individuals and controls; PMID: 26088964 commentary on PMID: 25678561 raising a lack of evidence for SIGMARI to be pathogenic, and that previous reports of patients with SIGMARI variants were also shown to harbour C9orf72 expansions; PMID: 26078401 - 3 novel homozygous variants reported

9 May 2016, Gel status: 0

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for SIGMAR1 were set to PMID: 26205306 one family report for association with Amyotrophic lateral sclerosis; PMID: 26088964 commentary on PMID: 25678561 raising a lack of evidence for SIGMARI to be pathogenic...patients with SIGMARI variants were also shown to harbour C9orf72 expansions.

9 May 2016, Gel status: 0

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for SIGMAR1 were set to PMID: 26205306 one family report for association with Amyotrophic lateral sclerosis; PMID: 26088964 commentary raising the lack of evidence for SIGMARI to be pathogenic...patients with SIGMARI variants were also shown to harbour C9orf72 expansions.

9 May 2016, Gel status: 0

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for SIGMAR1 were set to PMID: 26205306 one family report for association with Amyotrophic lateral sclerosis.

8 Dec 2015, Gel status: 0

Created

Mary Reilly (Institute of Neurology)

SIGMAR1 was created by MReilly-925

8 Dec 2015, Gel status: 0

Added New Source

Mary Reilly (Institute of Neurology)

SIGMAR1 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert Review