Genomics England
GMS Panels
Panels
Genes and Entities

SLC9A6

solute carrier family 9 member A6
OMIM: 300231
PanelMode of inheritanceDetails
6 panels
Green
in Ataxia and cerebellar anomalies - childhood onset
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies, childhood onset
Signed-off version 9.22
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Mental retardation, X-linked syndromic, Christianson type, 300243
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
MENTAL RETARDATION SYNDROMIC X-LINKED CHRISTIANSON TYPE 300243
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, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Mental retardation, X-linked syndromic, Christianson type, 300243
Green
in Hereditary ataxia, adult onset
Component of the following Super Panels:
  • - Adult-onset neurological disorders
Signed-off version 9.4
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Mental retardation, X-linked syndromic, Christianson type, 300243
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, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Mental retardation, X-linked syndromic, Christianson type, 300243, MENTAL RETARDATION SYNDROMIC X-LINKED CHRISTIANSON TYPE (MRXSC)
Green
in Severe microcephaly
R-numbers: R88
Signed-off version 9.13
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Angelman-like Syndrome, microcephaly, seizures, ataxia, and absent speech, Mental retardation, X-linked syndromic, Christianson type, 300243, Microcephaly