Genomics England

SLC17A5

solute carrier family 17 member 5

Panel	Mode of inheritance	Details
Filter panels8 panels
Green in Ataxia and cerebellar anomalies - narrow panel Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset Signed-off version 5.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Salla disease, OMIM:604369, Sialic acid storage disorder, infantile, OMIM:269920
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes INFANTILE SIALIC ACID STORAGE DISORDER 269920, SALLA DISEASE 604369
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes SALLA DISEASE, INFANTILE SIALIC ACID STORAGE DISORDER
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 6.13	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Salla disease, OMIM:604369, Sialic acid storage disorder, infantile, OMIM:269920
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 5.6	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Salla disease, OMIM:604369, Sialic acid storage disorder, infantile, OMIM:269920
Green in Lysosomal storage disorder R-numbers: R276 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Salla disease OMIM:604369, Salla disease MONDO:0011449, Sialic acid storage disorder, infantile OMIM:269920, free sialic acid storage disease, infantile form MONDO:0010027
Green in Skeletal dysplasia Component of the following Super Panels: - Paediatric disorders R-numbers: R104 Signed-off version 5.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Salla disease, OMIM:604369, Sialic acid storage disorder, infantile, OMIM:269920
Green in White matter disorders and cerebral calcification - narrow panel Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 4.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes General Leukodystrophy & Mitochondrial Leukoencephalopathy