Pain syndromes
Gene: SPTLC1

SPTLC1 (serine palmitoyltransferase long chain base subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000090054
EnsemblGeneIds (GRCh37): ENSG00000090054
OMIM: 605712, Gene2Phenotype
SPTLC1 is in 11 panels

3 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 IA; 162400

Created: 9 Jul 2017, 4:30 p.m.

Panel version: 0.3

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

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

Phenotypes
Hereditary sensory neuropathy type IA (HSAN 1)

Publications

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

Created: 9 Jul 2017, 4:30 p.m.

Panel version: 0.3

Arianna Tucci (Genomics England Curator)

Green List (high evidence)

pain and heat loss espacially
Created: 29 Jun 2017, 9:06 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neuropathy, hereditary sensory and autonomic, type IA 162400

Created: 29 Jun 2017, 9:06 a.m.

Panel version: Imported from "Pain" panel version 0.8

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Green

Phenotypes

Hereditary sensory neuropathy type IA
HSAN 1
Neuropathy, hereditary sensory and autonomic, type IA, 162400

OMIM

605712

Clinvar variants

Variants in SPTLC1

Penetrance

Complete

Publications

Panels with this gene