Genomics England
GMS Panels
Panels
Genes and Entities

SLC13A3

solute carrier family 13 member 3
OMIM: 606411
PanelMode of inheritanceDetails
4 panels
Green
in Early onset or syndromic epilepsy
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
Signed-off version 9.56
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate, OMIM:618384
Green
in Likely inborn error of metabolism
Component of the following Super Panels:
  • - Hypotonic infant
  • - Leukodystrophy, childhood onset
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 9.29
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate, OMIM:618384
Green
in Mitochondrial disorders
Component of the following Super Panels:
  • - Leukodystrophy, childhood onset
Signed-off version 10.18
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate, OMIM:618384
Green
in White matter disorders and cerebral calcification - childhood onset
Component of the following Super Panels:
  • - Leukodystrophy, childhood onset
  • - Paediatric disorders
Signed-off version 8.6
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate, OMIM:618384