SLC6A8

solute carrier family 6 member 8
OMIM: 300036
PanelMode of inheritanceDetails
5 panels
R-numbers: R57
Signed-off version 1.137
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 2.2
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
X-LINKED CREATINE DEFICIENCY SYNDROME 300352
R-numbers: R59
Signed-off version 2.2
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Cerebral creatine deficiency syndrome 1 300352
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
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)
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Cerebral creatine deficiency syndrome 1, 300352, X-LINKED CREATINE DEFICIENCY SYNDROME (XL-CDS)