Likely inborn error of metabolism

Gene: SPTLC2

Green List (high evidence)

Promoted from Amber to Green. This gene is associated with a relevant disease on OMIM and Gene2Phenotype and there is enough evidence to support a gene-disease association.

SPTLC2, encodes one of the two subunits of serine palmitoyltransferase (SPT), the enzyme catalyzing the first and rate-limiting step in the de novo synthesis of sphingolipids. PMID: 20920666 reports on three heterozygous missense mutations in the SPTLC2 subunit of SPT in four families and also confirmed cases in Bristol (see review on Hereditary Neuropathy panel https://panelapp.genomicsengland.co.uk/panels/85/)

This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.

Created: 26 Sep 2019, 8:41 a.m. | Last Modified: 26 Sep 2019, 8:41 a.m.

Panel Version: 1.281

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

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

Publications

• 20920666

Amber review assigned as this gene is Green on the V1 panel(s) named as a phenotype(s)

Created: 6 Jan 2017, 2:03 p.m.

Amber review assigned as this gene is Green on the V1 panel(s) named as a phenotype(s)

Created: 6 Jan 2017, 2:03 p.m.

Amber review assigned as this gene is Green on the V1 panel(s) named as a phenotype(s)

Created: 6 Jan 2017, 2:02 p.m.

Amber review assigned as this gene is Green on the V1 panel(s) named as a phenotype(s)

Created: 6 Jan 2017, 2:02 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Familial dysautonomia