Pain syndromes

Gene: SPTLC1

Green List (high evidence)

SPTLC1 (serine palmitoyltransferase long chain base subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000090054
EnsemblGeneIds (GRCh37): ENSG00000090054
OMIM: 605712, Gene2Phenotype
SPTLC1 is in 10 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

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

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

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

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 SPTLC1 were set to Hereditary sensory neuropathy type IA; HSAN 1; Neuropathy, hereditary sensory and autonomic, type IA, 162400

19 Sep 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for SPTLC1 were set to Hereditary sensory neuropathy type IA (HSAN 1); Neuropathy, hereditary sensory and autonomic, type IA, 162400

9 Jul 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for SPTLC1 were set to Hereditary sensory neuropathy type IA (HSAN 1);Neuropathy, hereditary sensory and autonomic, type IA; 162400

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

Created

BRIDGE consortium (NIHRBR-RD)

SPTLC1 was created by BRIDGE

9 Jul 2017, Gel status: 0

Added New Source

BRIDGE consortium (NIHRBR-RD)

SPTLC1 was added to Pain syndromespanel. Sources: BRIDGE Study Tier 1 Gene