Familial dysautonomia
Gene: SPTLC1EnsemblGeneIds (GRCh38): ENSG00000090054
EnsemblGeneIds (GRCh37): ENSG00000090054
OMIM: 605712, Gene2Phenotype
SPTLC1 is in 11 panels
2 reviews
Horacio Kaufmann (Felicia B. Axelrod Professor of Dysautonomia Research, Department of Neurology, Department of Neurology, NYU School of Medicine, New York)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sarah Leigh (Genomics England Curator)
Associated with phenotype in OMIM, not in G2P / DD. At least five variants reportedCreated: 30 Aug 2016, 2:36 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neuropathy, hereditary sensory and autonomic, type IA 162400
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Neuropathy, hereditary sensory and autonomic, type IA 162400
- OMIM
- 605712
- Clinvar variants
- Variants in SPTLC1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Retinal disorders
- Likely inborn error of metabolism
- Familial dysautonomia
- Hereditary neuropathy
- Pain syndromes
- Intellectual disability
- Paroxysmal central nervous system disorders
- Hereditary neuropathy or pain disorder
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
History Filter Activity
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 on 1st December 2016 by Alice Gardham. Currently for pilot study only patients. Will need review following pilot study results.
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Added New Source
Sarah Leigh (Genomics England Curator)SPTLC1 was added to Familial dysautonomiapanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
Created
Sarah Leigh (Genomics England Curator)SPTLC1 was created by sleigh