Pain syndromes
Gene: SPTLC2
SPTLC2 (serine palmitoyltransferase long chain base subunit 2)
EnsemblGeneIds (GRCh38): ENSG00000100596
EnsemblGeneIds (GRCh37): ENSG00000100596
OMIM: 605713, Gene2Phenotype
SPTLC2 is in 7 panels
EnsemblGeneIds (GRCh38): ENSG00000100596
EnsemblGeneIds (GRCh37): ENSG00000100596
OMIM: 605713, Gene2Phenotype
SPTLC2 is in 7 panels
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Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Genomics England PanelApp
- 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
- None
- Publications
- Panels with this gene
History Filter Activity
1 Apr 2020, Gel status: 3
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Added phenotypes Hereditary sensory and autonomic neuropathy type IC; HSAN 1; Neuropathy, hereditary sensory and autonomic, type IC, 613640 for gene: SPTLC2
1 Apr 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: SPTLC2 was added gene: SPTLC2 was added to Pain syndromes. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: SPTLC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SPTLC2 were set to 26681808; 23658386; 12207934; 27025386; 20920666 Phenotypes for gene: SPTLC2 were set to Hereditary sensory and autonomic neuropathy type IC; HSAN 1; Neuropathy, hereditary sensory and autonomic, type IC, 613640