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  2. Miscellaneous Metabolic Disorders
  3. SPTLC2
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Miscellaneous Metabolic Disorders

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 7 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, 9:31 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neuropathy, hereditary sensory and autonomic, type IC, MIM# 613640; Serine palmitoyl transferase deficiency (Disorders of complex lipid synthesis)

Publications

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

Panel version: 0.81

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Neuropathy, hereditary sensory and autonomic, type IC, MIM# 613640
  • Serine palmitoyl transferase deficiency (Disorders of complex lipid synthesis)
OMIM
605713
Clinvar variants
Variants in SPTLC2
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: sptlc2 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: sptlc2 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: SPTLC2 was added gene: SPTLC2 was added to Miscellaneous Metabolic Disorders. Sources: Expert list Mode of inheritance for gene: SPTLC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SPTLC2 were set to 27604308; 20920666 Phenotypes for gene: SPTLC2 were set to Neuropathy, hereditary sensory and autonomic, type IC, MIM# 613640; Serine palmitoyl transferase deficiency (Disorders of complex lipid synthesis) Review for gene: SPTLC2 was set to GREEN