SLC22A5

solute carrier family 22 member 5
OMIM: 603377
PanelMode of inheritanceDetails
4 panels
R-numbers: R135
Signed-off version 1.4
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
DCM, Propionicacidemia, Carnitine transporter deficiency (Disorders of carnitine transport and the carnitine cycle), Arrhythmia, muscle weakness or hypotonia, liver disease, hypoketotic hypoglycaemia, HCM, mixed, Carnitine transporter deficiency (primary carnitine deficiency)
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SYSTEMIC PRIMARY CARNITINE DEFICIENCY 212140
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Propionicacidemia, Carnitine transporter deficiency (Disorders of carnitine transport and the carnitine cycle)
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
Signed-off version 1.34
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Carnitine deficiency, systemic primary 212140