Genomics England
GMS Panels
Panels
Genes and Entities

SPTLC1

serine palmitoyltransferase long chain base subunit 1
OMIM: 605712
PanelMode of inheritanceDetails
2 panels
Green
in Hereditary neuropathy or pain disorder
R-numbers: R78
Signed-off version 6.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Hereditary Sensory and Autonomic Neuropathy, Type II, Neuropathy, hereditary sensory and autonomic, type IA, 162400
Green
in Likely inborn error of metabolism
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 7.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Charcot-Marie-Tooth disease, Serine palmitoyl transferase deficiency (Disorders of complex lipid synthesis), Familial dysautonomia