serine palmitoyltransferase long chain base subunit 1
OMIM: 605712
PanelMode of inheritanceDetails
2 panels
R-numbers: R78
Signed-off version 3.24
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hereditary Sensory and Autonomic Neuropathy, Type II, Neuropathy, hereditary sensory and autonomic, type IA, 162400
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 4.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Charcot-Marie-Tooth disease, Serine palmitoyl transferase deficiency (Disorders of complex lipid synthesis), Familial dysautonomia