SPTLC2

serine palmitoyltransferase long chain base subunit 2
OMIM: 605713
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC 613640
R-numbers: R78
Signed-off version 1.36
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Hereditary Sensory and Autonomic Neuropathy, Type IC, Neuropathy, hereditary sensory and autonomic, type IC, 613640
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Charcot-Marie-Tooth disease, Serine palmitoyl transferase deficiency (Disorders of complex lipid synthesis), Familial dysautonomia