Hereditary neuropathy or pain disorder
Gene: SPTLC1EnsemblGeneIds (GRCh38): ENSG00000090054
EnsemblGeneIds (GRCh37): ENSG00000090054
OMIM: 605712, Gene2Phenotype
SPTLC1 is in 11 panels
8 reviews
Natalie Forrester (SWGLH - Bristol Genetics)
2 variants in 3 different probands with sensory neuropathy in Bristol. PMID: 20097765 - showed that the pathological mechanism in HSAN1 is the accumulation of neurotoxic metabolites rather than the reduced de novo sphingolipid synthesis i.e. stated that gain of function mechanism. PMID: 16216550 - heterozygous SPTLC1 and SPTLC2 knock-out mice, which have a significantly reduced SPT activity, do not develop neuropathic symptomsCreated: 29 Apr 2019, 12:30 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Neuropathy, hereditary sensory and autonomic, type IA, 162400 ; Hereditary Sensory and Autonomic Neuropathy, Type II ; Neuropathy, hereditary sensory and autonomic, type IA, 162400
Publications
Variants in this GENE are reported as part of current diagnostic practice
Louise Daugherty (Genomics England Curator)
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.
Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.Created: 29 Apr 2019, 12:53 p.m.
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
Variants in this GENE are reported as part of current diagnostic practice
Rita Horvath (Institute of Genetic Medicine, Newcastle University)
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
Variants in this GENE are reported as part of current diagnostic practice
Thalia Antoniadi (West Midlands Regional Genetics Laboratory)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Ellen McDonagh (Genomics England Curator)
Comment on mode of inheritance: Changed due to feedback from QC team.Created: 13 Mar 2017, 5:01 p.m.
This gene is in the Charcot Marie Tooth Disease section in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual, for testing of Hereditary Sensory and Autonomic Neuropathy.Created: 10 Jun 2016, 1:20 p.m.
Comment on list classification: 4 reviewers agreeing.Created: 10 May 2016, 10:58 a.m.
Alexander Rossor (UCL Institute of Neurology)
Disease due to toxic deoxysphingolipidsCreated: 9 Dec 2015, 8:48 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
Variants in this GENE are reported as part of current diagnostic practice
Mary Reilly (Institute of Neurology)
Disease due to toxic deoxysphingolipidsCreated: 8 Dec 2015, 3:05 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Radboud University Medical Center, Nijmegen
- South West GLH
- Expert Review Green
- UKGTN
- Emory Genetics Laboratory
- Expert list
- London North GLH
- Illumina TruGenome Clinical Sequencing Services
- NHS GMS
- South West GLH
- NHS GMS
- London North GLH
- Phenotypes
-
- Hereditary Sensory and Autonomic Neuropathy, Type II
- Neuropathy, hereditary sensory and autonomic, type IA, 162400
- OMIM
- 605712
- Clinvar variants
- Variants in SPTLC1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Familial dysautonomia
- Hereditary neuropathy
- Hereditary neuropathy or pain disorder
- Retinal disorders
- Pain syndromes
- Paroxysmal central nervous system disorders
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: SPTLC1 was added gene: SPTLC1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: SPTLC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SPTLC1 were set to 20097765; 16216550 Phenotypes for gene: SPTLC1 were set to Hereditary Sensory and Autonomic Neuropathy, Type II; Neuropathy, hereditary sensory and autonomic, type IA, 162400