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Likely inborn error of metabolism - targeted testing not possible v3.6 SPTLC1 Achchuthan Shanmugasundram Tag Q1_22_MOI was removed from gene: SPTLC1.
Likely inborn error of metabolism - targeted testing not possible v3.6 SPTLC1 Achchuthan Shanmugasundram commented on gene: SPTLC1
Likely inborn error of metabolism - targeted testing not possible v3.5 SPTLC1 Achchuthan Shanmugasundram Mode of inheritance for gene SPTLC1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Likely inborn error of metabolism - targeted testing not possible v2.236 SPTLC1 Sarah Leigh Tag Q1_22_MOI tag was added to gene: SPTLC1.
Likely inborn error of metabolism - targeted testing not possible v2.236 SPTLC1 Sarah Leigh Added comment: Comment on mode of inheritance: There is no data to support that homozygous variants of SPTLC1 are associated with Neuropathy, hereditary sensory and autonomic, type IA, OMIM:162400. Therefore the MOI for this gene should be MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Likely inborn error of metabolism - targeted testing not possible v2.236 SPTLC1 Sarah Leigh Mode of inheritance for gene: SPTLC1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v2.235 SPTLC1 Sarah Leigh Publications for gene: SPTLC1 were set to 27604308; 20097765; 21618344; 20097765; 30420926
Likely inborn error of metabolism - targeted testing not possible v2.234 SPTLC1 Sarah Leigh Deleted their comment
Likely inborn error of metabolism - targeted testing not possible v2.234 SPTLC1 Sarah Leigh Deleted their comment
Likely inborn error of metabolism - targeted testing not possible v2.234 SPTLC1 Sarah Leigh Deleted their comment
Likely inborn error of metabolism - targeted testing not possible v1.286 SPTLC1 Catherine Snow changed review comment from: Promoted from Amber to Green. This gene is associated with a relevant disease in OMIM and there is enough evidence to support a gene-disease association.

SPTLC1, 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 20097765 reports that mutations in SPTLC1 cause a gain of function mechanism, which results in the formation of two atypical and neurotoxic sphingolipid metabolites.

Confirmed cases in Bristol (see review on Hereditary Neuropathy panel https://panelapp.genomicsengland.co.uk/panels/85/) and in sufficient publications.; to: Promoted from Amber to Green. This gene is associated with a relevant disease in OMIM and there is enough evidence to support a gene-disease association.

SPTLC1, 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 20097765 reports that mutations in SPTLC1 cause a gain of function mechanism, which results in the formation of two atypical and neurotoxic sphingolipid metabolites.

Confirmed cases in Bristol (see review on Hereditary Neuropathy panel https://panelapp.genomicsengland.co.uk/panels/85/) and in sufficient publications.

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.
Likely inborn error of metabolism - targeted testing not possible v1.286 SPTLC1 Catherine Snow Classified gene: SPTLC1 as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.286 SPTLC1 Catherine Snow Gene: sptlc1 has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.285 SPTLC1 Catherine Snow Publications for gene: SPTLC1 were set to 27604308; 20097765; 21618344; 20097765; 30420926
Likely inborn error of metabolism - targeted testing not possible v1.285 SPTLC1 Catherine Snow Publications for gene: SPTLC1 were set to 27604308; 20097765; 21618344; 20097765; 30420926
Likely inborn error of metabolism - targeted testing not possible v1.284 SPTLC1 Catherine Snow Publications for gene: SPTLC1 were set to 27604308; 20097765; 21618344; 20097765; 30420926
Likely inborn error of metabolism - targeted testing not possible v1.284 SPTLC1 Catherine Snow Publications for gene: SPTLC1 were set to 27604308
Likely inborn error of metabolism - targeted testing not possible v1.283 SPTLC1 Catherine Snow reviewed gene: SPTLC1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 20097765, 21618344, 20097765, 30420926; Phenotypes: Neuropathy, hereditary sensory and autonomic, type IA, 162400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Likely inborn error of metabolism - targeted testing not possible v1.47 SPTLC1 Ivone Leong Source NHS GMS was added to SPTLC1.
Source London North GLH was added to SPTLC1.
Likely inborn error of metabolism - targeted testing not possible v0.4 SPTLC1 Ellen McDonagh gene: SPTLC1 was added
gene: SPTLC1 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: SPTLC1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SPTLC1 were set to 27604308
Phenotypes for gene: SPTLC1 were set to Charcot-Marie-Tooth disease; Serine palmitoyl transferase deficiency (Disorders of complex lipid synthesis); Familial dysautonomia