Genomics England
GMS Panels
Panels
Genes and Entities

SLC25A13

solute carrier family 25 member 13
OMIM: 603859
PanelMode of inheritanceDetails
2 panels
Green
in Cholestasis
R-numbers: R171
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CHOLESTASIS, NEONATAL INTRAHEPATIC, CAUSED BY CITRIN DEFICIENCY, NICCD, Citrullinemia type 2, neonatal onset, Citrullinemia type 2, adult onset, Citrullinemia, adult-onset type II 603471, Citrullinemia, type II, neonatal-onset 605814, Neonatal and Adult Cholestasis
Green
in Likely inborn error of metabolism
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 6.14
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Citrullinemia, adult-onset type II 603471, Citrullinemia, adult-onset type II, 603471Citrullinemia, type II, neonatal-onset, 605814, Citrullinemia Type 2 (Urea cycle disorders and inherited hyperammonaemias)