Genomics England
GMS Panels
Panels
Genes and Entities

SLC22A5

solute carrier family 22 member 5
OMIM: 603377
PanelMode of inheritanceDetails
5 panels
Green
in Acute rhabdomyolysis
R-numbers: R419
Signed-off version 1.7
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Carnitine deficiency, systemic primary, OMIM:212140
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SYSTEMIC PRIMARY CARNITINE DEFICIENCY 212140
Green
in Likely inborn error of metabolism - targeted testing not possible
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
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Propionicacidemia, Carnitine transporter deficiency (Disorders of carnitine transport and the carnitine cycle)
Green
in Paediatric or syndromic cardiomyopathy
Component of the following Super Panels:
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R135
Signed-off version 3.0
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 Rhabdomyolysis and metabolic muscle disorders
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Carnitine deficiency, systemic primary 212140