Pain syndromes
Gene: SPTLC1
SPTLC1 (serine palmitoyltransferase long chain base subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000090054
EnsemblGeneIds (GRCh37): ENSG00000090054
OMIM: 605712, Gene2Phenotype
SPTLC1 is in 9 panels
EnsemblGeneIds (GRCh38): ENSG00000090054
EnsemblGeneIds (GRCh37): ENSG00000090054
OMIM: 605712, Gene2Phenotype
SPTLC1 is in 9 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 neuropathy type IA
- HSAN 1
- Neuropathy, hereditary sensory and autonomic, type IA, 162400
- OMIM
- 605712
- Clinvar variants
- Variants in SPTLC1
- 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 Neuropathy, hereditary sensory and autonomic, type IA, 162400; HSAN 1; Hereditary sensory neuropathy type IA for gene: SPTLC1
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: SPTLC1 was added gene: SPTLC1 was added to Pain syndromes. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: SPTLC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SPTLC1 were set to 11242114; 11242106; 15037712 Phenotypes for gene: SPTLC1 were set to Neuropathy, hereditary sensory and autonomic, type IA, 162400; HSAN 1; Hereditary sensory neuropathy type IA