Familial dysautonomia
Gene: SPTLC2EnsemblGeneIds (GRCh38): ENSG00000100596
EnsemblGeneIds (GRCh37): ENSG00000100596
OMIM: 605713, Gene2Phenotype
SPTLC2 is in 13 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 and G2P / DD. At least six variants reported.Created: 30 Aug 2016, 1:09 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neuropathy, hereditary sensory and autonomic, type IC 613640
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Emory Genetics Laboratory
- UKGTN
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Neuropathy, hereditary sensory and autonomic, type IC 613640
- OMIM
- 605713
- Clinvar variants
- Variants in SPTLC2
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Adult onset neurodegenerative disorder
- Paroxysmal central nervous system disorders
- Likely inborn error of metabolism
- DDG2P
- Undiagnosed metabolic disorders
- Familial dysautonomia
- Hereditary neuropathy
- Hereditary neuropathy or pain disorder
- Intellectual disability
- Fetal anomalies
- Childhood onset dystonia, chorea or related movement disorder
- Retinal disorders
- Pain syndromes
History Filter Activity
Set publications
Alice Gardham (Genomics England)Publications for SPTLC2 were set to 20920666; 27025386; 26573920; 23658386
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)SPTLC2 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)SPTLC2 was created by sleigh