Pain syndromes
Gene: SPTLC2EnsemblGeneIds (GRCh38): ENSG00000100596
EnsemblGeneIds (GRCh37): ENSG00000100596
OMIM: 605713, Gene2Phenotype
SPTLC2 is in 13 panels
2 reviews
BRIDGE consortium (NIHRBR-RD)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Hereditary sensory and autonomic neuropathy type IC (HSAN 1)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Phenotypes
-
- Hereditary sensory and autonomic neuropathy type IC
- HSAN 1
- Neuropathy, hereditary sensory and autonomic, type IC, 613640
- OMIM
- 605713
- Clinvar variants
- Variants in SPTLC2
- Penetrance
- Complete
- 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
- DDG2P
- Pain syndromes
- Fetal anomalies
- Paroxysmal central nervous system disorders
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
History Filter Activity
panel promoted to version 1
Louise Daugherty (Genomics England Curator)19th September 2017. Panel reviews were assessed, and panel was revised according to reviews and further curation.
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for SPTLC2 were set to Hereditary sensory and autonomic neuropathy type IC;HSAN 1; Neuropathy, hereditary sensory and autonomic, type IC, 613640
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for SPTLC2 were set to Hereditary sensory and autonomic neuropathy type IC (HSAN 1); Neuropathy, hereditary sensory and autonomic, type IC, 613640
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for SPTLC2 were set to Hereditary sensory and autonomic neuropathy type IC (HSAN 1);Neuropathy, hereditary sensory and autonomic, type IC; 613640
Set publications
Louise Daugherty (Genomics England Curator)Publications for SPTLC2 were set to 12207934; 20920666; 23658386;27025386; 26681808
Gene classified by Genomics England curator
Louise Daugherty (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
BRIDGE consortium (NIHRBR-RD)SPTLC2 was added to Pain syndromespanel. Sources: BRIDGE Study Tier 1 Gene
Created
BRIDGE consortium (NIHRBR-RD)SPTLC2 was created by BRIDGE