Genomics England
GMS Panels
Panels
Genes and Entities

SLC6A8

solute carrier family 6 member 8
OMIM: 300036
PanelMode of inheritanceDetails
5 panels
Green
in Childhood onset dystonia, chorea or related movement disorder
R-numbers: R57
Signed-off version 4.3
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 4.3
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 5.10
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 6.13
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 5.6
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)