1. Panels
  2. Miscellaneous Metabolic Disorders
  3. SPTLC1
STRs in panel
Prev Next
Regions in panel
Prev Next

Miscellaneous Metabolic Disorders

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 9 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.
Sources: Expert list
Created: 31 Jan 2021, 9:29 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neuropathy, hereditary sensory and autonomic, type IA, MIM# 162400; Serine palmitoyl transferase deficiency (Disorders of complex lipid synthesis)

Publications

Created: 31 Jan 2021, 9:29 a.m.

Panel version: 0.79

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Neuropathy, hereditary sensory and autonomic, type IA, MIM# 162400
  • Serine palmitoyl transferase deficiency (Disorders of complex lipid synthesis)
OMIM
605712
Clinvar variants
Variants in SPTLC1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

31 Jan 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sptlc1 has been classified as Green List (High Evidence).

31 Jan 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sptlc1 has been classified as Green List (High Evidence).

31 Jan 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SPTLC1 was added gene: SPTLC1 was added to Miscellaneous Metabolic Disorders. Sources: Expert list Mode of inheritance for gene: SPTLC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SPTLC1 were set to 27604308; 20097765; 21618344; 20097765; 30420926 Phenotypes for gene: SPTLC1 were set to Neuropathy, hereditary sensory and autonomic, type IA, MIM# 162400; Serine palmitoyl transferase deficiency (Disorders of complex lipid synthesis) Review for gene: SPTLC1 was set to GREEN