Pain syndromes

Gene: SPTLC2

Green List (high evidence)

SPTLC2 (serine palmitoyltransferase long chain base subunit 2)
EnsemblGeneIds (GRCh38): ENSG00000100596
EnsemblGeneIds (GRCh37): ENSG00000100596
OMIM: 605713, Gene2Phenotype
SPTLC2 is in 12 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Neuropathy, hereditary sensory and autonomic, type IC; 613640

Publications

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Hereditary sensory and autonomic neuropathy type IC (HSAN 1)

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
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
Complete
Publications
Panels with this gene

History Filter Activity

19 Sep 2017, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

19th September 2017. Panel reviews were assessed, and panel was revised according to reviews and further curation.

19 Sep 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for SPTLC2 were set to Hereditary sensory and autonomic neuropathy type IC;HSAN 1; Neuropathy, hereditary sensory and autonomic, type IC, 613640

19 Sep 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for SPTLC2 were set to Hereditary sensory and autonomic neuropathy type IC (HSAN 1); Neuropathy, hereditary sensory and autonomic, type IC, 613640

9 Jul 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for SPTLC2 were set to Hereditary sensory and autonomic neuropathy type IC (HSAN 1);Neuropathy, hereditary sensory and autonomic, type IC; 613640

9 Jul 2017, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for SPTLC2 were set to 12207934; 20920666; 23658386;27025386; 26681808

9 Jul 2017, Gel status: 4

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

9 Jul 2017, Gel status: 0

Added New Source

BRIDGE consortium (NIHRBR-RD)

SPTLC2 was added to Pain syndromespanel. Sources: BRIDGE Study Tier 1 Gene

9 Jul 2017, Gel status: 0

Created

BRIDGE consortium (NIHRBR-RD)

SPTLC2 was created by BRIDGE