Genomics England

solute carrier family 25 member 15

Panel	Mode of inheritance	Details
Filter panels5 panels
Green in Adult onset hereditary spastic paraplegia R-numbers: R60 Signed-off version 5.5	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, OMIM:238970
Green in Childhood onset hereditary spastic paraplegia R-numbers: R61 Signed-off version 7.7	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 5.48	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 8.134	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 7.13	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, OMIM:238970, HHH syndrome (Urea cycle disorders and inherited hyperammonaemias)