SPTLC1

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

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green SPTLC1 in Motor Neurone Disease Level 2: Neurology and neurodevelopmental disorders Version 1.24 Component of the following Super Panels: Neurodegenerative disease - adult onset Neuromuscular Superpanel Progressive Neurological Conditions	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes juvenile amyotrophic lateral sclerosis MONDO:0017593
Green SPTLC1 in Mendeliome Version 1.1902	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Juvenile amyotrophic lateral sclerosis-27, MIM#620285 Neuropathy, hereditary sensory and autonomic, type IA, MIM# 162400 Serine palmitoyl transferase deficiency (Disorders of complex lipid synthesis)
Red SPTLC1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Phenotypes Neuropathy, hereditary sensory and autonomic, type IA OMIM #162400
Green SPTLC1 in Hereditary Neuropathy_CMT - isolated Level 2: Neurology and neurodevelopmental disorders Version 1.48 Component of the following Super Panels: Hereditary Neuropathy_CMT_IsolatedAndComplex Neuromuscular Superpanel Progressive Neurological Conditions	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Juvenile amyotrophic lateral sclerosis-27, MIM#620285 HSAN/SFN Hereditary Sensory and Autonomic Neuropathy, Type II Neuropathy, hereditary sensory and autonomic, type IA, 162400
Green SPTLC1 in Pain syndromes Level 2: Neurology and neurodevelopmental disorders Version 0.34 Component of the following Super Panels: Progressive Neurological Conditions	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Genomics England PanelApp Phenotypes Hereditary sensory neuropathy type IA HSAN 1 Neuropathy, hereditary sensory and autonomic, type IA, 162400
Green SPTLC1 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Neuropathy, hereditary sensory and autonomic, type IA
Green SPTLC1 in Autonomic neuropathy Level 2: Autonomic Neuropathy Version 0.50	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes OMIM# 162400 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA HSAN1A
Green SPTLC1 in Miscellaneous Metabolic Disorders Level 2: Metabolic disorders Version 1.46 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Neuropathy, hereditary sensory and autonomic, type IA, MIM# 162400 Serine palmitoyl transferase deficiency (Disorders of complex lipid synthesis)
Amber SPTLC1 in BabyScreen+ newborn screening Level 2: Screening Version 1.114	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber BabySeq Category A gene Phenotypes Neuropathy, hereditary sensory and autonomic, type IA, MIM# 162400