SPTLC1

serine palmitoyltransferase long chain base subunit 1
OMIM: 605712, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green SPTLC1 in Familial dysautonomia Version 1.17	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory UKGTN Radboud University Medical Center, Nijmegen Phenotypes Neuropathy, hereditary sensory and autonomic, type IA 162400
Green SPTLC1 in Pain syndromes Level 3: Channelopathies Level 2: Neurology and neurodevelopmental disorders Version 1.12	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green BRIDGE Study Tier 1 Gene Phenotypes Hereditary sensory neuropathy type IA HSAN 1 Neuropathy, hereditary sensory and autonomic, type IA, 162400
Red SPTLC1 in Paroxysmal central nervous system disorders Version 1.44 Latest signed off version: v1.2 (27 Feb 2020)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red NHS GMS London North GLH Wessex and West Midlands GLH Phenotypes HSAN 1 Neuropathy, hereditary sensory and autonomic, type IA, 162400 Hereditary sensory neuropathy type IA
Green SPTLC1 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.542	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Serine palmitoyl transferase deficiency (Disorders of complex lipid synthesis) Charcot-Marie-Tooth disease Familial dysautonomia
Green SPTLC1 in Inborn errors of metabolism Version 2.263 Latest signed off version: v2.3 (17 Feb 2020) Component of the following Super Panels: Hypotonic infant Paediatric disorders White matter disorders - childhood onset	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Charcot-Marie-Tooth disease Serine palmitoyl transferase deficiency (Disorders of complex lipid synthesis) Familial dysautonomia Tags Q1_22_MOI
Green SPTLC1 in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.454	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources South West GLH NHS GMS London North GLH Expert Review Green Emory Genetics Laboratory UKGTN Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Hereditary Sensory and Autonomic Neuropathy, Type II Neuropathy, hereditary sensory and autonomic, type IA, 162400 Hereditary Sensory and Autonomic Neuropathy, Type II Neuropathy, hereditary sensory and autonomic, type IA, 162400
Red SPTLC1 in Intellectual disability Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 3.1677 Latest signed off version: v3.2 (13 Feb 2020) Component of the following Super Panels: Hypotonic infant Paediatric disorders White matter disorders - childhood onset	review	Not set	Sources Victorian Clinical Genetics Services
Amber SPTLC1 in Retinal disorders Level 3: Posterior segment abnormalities Level 2: Ophthalmological disorders Version 2.285 Latest signed off version: v2.195 (5 Aug 2021)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes macular telangiectasia type 2 vision loss Tags watchlist
Green SPTLC1 in Hereditary neuropathy NOT PMP22 copy number Version 1.103 Latest signed off version: v1.36 (5 Aug 2021)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Radboud University Medical Center, Nijmegen South West GLH Expert Review Green UKGTN Emory Genetics Laboratory Expert list London North GLH Illumina TruGenome Clinical Sequencing Services NHS GMS South West GLH NHS GMS London North GLH Phenotypes Hereditary Sensory and Autonomic Neuropathy, Type II Neuropathy, hereditary sensory and autonomic, type IA, 162400
Red SPTLC1 in Childhood onset dystonia or chorea or related movement disorder Version 1.246 Latest signed off version: v1.137 (5 Aug 2021)	review	Not set	Sources Expert Review Red London North GLH
Green SPTLC1 in Severe Paediatric Disorders Version 1.127	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Neuropathy, hereditary sensory and autonomic, type IA, 162400