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 NOT PMP22 copy number
R-numbers: R78
Signed-off version 2.1
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 Inborn errors of metabolism
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 3.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Charcot-Marie-Tooth disease, Serine palmitoyl transferase deficiency (Disorders of complex lipid synthesis), Familial dysautonomia