SLC25A15

solute carrier family 25 member 15
OMIM: 603861
PanelMode of inheritanceDetails
5 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME 238970
R-numbers: R60
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, OMIM:238970
R-numbers: R61
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, OMIM:238970
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, OMIM:238970, HHH syndrome (Urea cycle disorders and inherited hyperammonaemias)
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, OMIM:238970