Genomics England

solute carrier family 13 member 3

Panel	Mode of inheritance	Details
Filter panels4 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 R-numbers: R59 Signed-off version 7.54	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: - 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 Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate, OMIM:618384
Green in Mitochondrial disorders Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 8.9	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate, OMIM:618384
Green in White matter disorders and cerebral calcification - narrow panel Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 6.9	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate, OMIM:618384