Hereditary neuropathy
Gene: SPTLC2
Multiple C5s in Bristol. Also well established from looking at HGMD. PMID: 20920666 - first report showing mutations result in a partial to complete loss of SPT activity in vitro and in vivoCreated: 29 Apr 2019, 12:30 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Neuropathy, hereditary sensory and autonomic, type IC, 613640 ; Hereditary Sensory and Autonomic Neuropathy, Type IC
Publications
Variants in this GENE are reported as part of current diagnostic practice
Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.Created: 9 May 2019, 5 p.m.
Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.Created: 29 Apr 2019, 12:53 p.m.
Variants in this GENE are reported as part of current diagnostic practice
As aboveCreated: 9 Dec 2015, 8:48 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
Variants in this GENE are reported as part of current diagnostic practice
Comment on mode of pathogenicity: Missense variants reported in OMIM, which would come under tier 2.Created: 10 May 2016, 11:15 a.m.
Comment on list classification: All four reviewers agree this should be green.Created: 10 May 2016, 11:02 a.m.
"As above" refers to the comments for the SPTLC1 gene by Mary Reilly.Created: 8 Dec 2015, 3:16 p.m.
As aboveCreated: 8 Dec 2015, 3:05 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Neuropathy, hereditary sensory and autonomic, type IC, 613640; Hereditary Sensory and Autonomic Neuropathy, Type IC for gene: SPTLC2 Publications for gene SPTLC2 were changed from to 20920666
Source South West GLH was added to SPTLC2.
Source NHS GMS was added to SPTLC2.
Source London North GLH was added to SPTLC2. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Mode of pathogenicity for SPTLC2 was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene SPTLC2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene SPTLC2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene SPTLC2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene SPTLC2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene SPTLC2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene SPTLC2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
SPTLC2 was added to Charcot-Marie-Tooth diseasepanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Expert list,UKGTN,Emory Genetics Laboratory
Model of inheritance for gene SPTLC2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
SPTLC2 was added to Charcot-Marie-Tooth diseasepanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Expert list,UKGTN,Emory Genetics Laboratory
Model of inheritance for gene SPTLC2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
SPTLC2 was added to Charcot-Marie-Tooth diseasepanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Expert list,UKGTN,Emory Genetics Laboratory
Model of inheritance for gene SPTLC2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
SPTLC2 was added to Charcot-Marie-Tooth diseasepanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Expert list,UKGTN,Emory Genetics Laboratory
SPTLC2 was added to Charcot-Marie-Tooth diseasepanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Expert list,UKGTN,Emory Genetics Laboratory