Genomics England

SLC6A8

solute carrier family 6 member 8

Panel	Mode of inheritance	Details
Filter panels5 panels
Green in Childhood onset dystonia, chorea or related movement disorder R-numbers: R57 Signed-off version 5.4	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes Cerebral creatine deficiency syndrome 1, 300352
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.15	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes X-LINKED CREATINE DEFICIENCY SYNDROME 300352
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 6.9	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes Cerebral creatine deficiency syndrome 1 300352
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 7.51	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes Cerebral creatine deficiency syndrome 1, 300352, X-LINKED CREATINE DEFICIENCY SYNDROME (XL-CDS)
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 6.14	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes Intellectual disability, Creatine transporter deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only), disorders of creatinine metabolism)