Paroxysmal central nervous system disorders
Gene: SPTLC2EnsemblGeneIds (GRCh38): ENSG00000100596
EnsemblGeneIds (GRCh37): ENSG00000100596
OMIM: 605713, Gene2Phenotype
SPTLC2 is in 13 panels
3 reviews
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
Rebecca Foulger (Genomics England curator)
Comment on list classification: Demoted SPTLC2 from Green to Red based on Red reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.Created: 9 Sep 2019, 3:30 p.m. | Last Modified: 9 Sep 2019, 3:30 p.m.
Panel Version: 0.76
Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.Created: 2 Sep 2019, 2:39 p.m. | Last Modified: 2 Sep 2019, 2:39 p.m.
Panel Version: 0.26
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust) was collated (February 2019) on behalf of West Midlands, Oxford and Wessex GLH for the GMS Neurology specialist test group.Created: 2 Sep 2019, 1:39 p.m. | Last Modified: 2 Sep 2019, 1:39 p.m.
Panel Version: 0.23
Tracy Lester (Genetics laboratory, Oxford UK)
Not a CNS disorderCreated: 2 Sep 2019, 1:30 p.m. | Last Modified: 2 Sep 2019, 1:30 p.m.
Panel Version: 0.22
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Neuropathy, hereditary sensory and autonomic, type IC, 613640
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- NHS GMS
- London North GLH
- Wessex and West Midlands GLH
- Phenotypes
-
- HSAN 1
- Hereditary sensory and autonomic neuropathy type IC
- Neuropathy, hereditary sensory and autonomic, type IC, 613640
- OMIM
- 605713
- Clinvar variants
- Variants in SPTLC2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Familial dysautonomia
- Adult onset neurodegenerative disorder
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary neuropathy or pain disorder
- Likely inborn error of metabolism
- Pain syndromes
- Undiagnosed metabolic disorders
- Intellectual disability
- DDG2P
- Retinal disorders
- Hereditary neuropathy
- Fetal anomalies
- Paroxysmal central nervous system disorders
History Filter Activity
Entity classified by Genomics England curator
Rebecca Foulger (Genomics England curator)Gene: sptlc2 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Rebecca Foulger (Genomics England curator)Gene: sptlc2 has been classified as Red List (Low Evidence).
Added New Source
Rebecca Foulger (Genomics England curator)Source NHS GMS was added to SPTLC2.
Added New Source
Rebecca Foulger (Genomics England curator)Source London North GLH was added to SPTLC2.
Added New Source
Rebecca Foulger (Genomics England curator)Source Wessex and West Midlands GLH was added to SPTLC2.
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Added phenotypes HSAN 1; Hereditary sensory and autonomic neuropathy type IC; Neuropathy, hereditary sensory and autonomic, type IC, 613640 for gene: SPTLC2
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: SPTLC2 was added gene: SPTLC2 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: 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 27025386; 26681808; 20920666; 12207934; 23658386 Phenotypes for gene: SPTLC2 were set to HSAN 1; Hereditary sensory and autonomic neuropathy type IC; Neuropathy, hereditary sensory and autonomic, type IC, 613640