Genomics England

SLC6A8

solute carrier family 6 member 8

Panel	Mode of inheritance	Details
Filter panels5 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 8.0	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes X-LINKED CREATINE DEFICIENCY SYNDROME 300352
Green in Dystonia, chorea or related movement disorder, childhood onset R-numbers: R57 Signed-off version 8.13	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes Cerebral creatine deficiency syndrome 1, 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 Signed-off version 9.56	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: - Hypotonic infant - Leukodystrophy, childhood onset - Paediatric disorders Signed-off version 11.0	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: - Hypotonic infant - Leukodystrophy, childhood onset - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 9.29	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)