Genomics England
GMS Panels
Panels
Genes and Entities

SLC25A15

solute carrier family 25 member 15
OMIM: 603861
PanelMode of inheritanceDetails
5 panels
Green
in Adult onset hereditary spastic paraplegia
R-numbers: R60
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, OMIM:238970
Green
in Childhood onset hereditary spastic paraplegia
R-numbers: R61
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, OMIM:238970
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME 238970
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, OMIM:238970
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 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, OMIM:238970, HHH syndrome (Urea cycle disorders and inherited hyperammonaemias)