Ataxia and cerebellar anomalies - narrow panel
Gene: SLC9A6
SLC9A6 (solute carrier family 9 member A6)
EnsemblGeneIds (GRCh38): ENSG00000198689
EnsemblGeneIds (GRCh37): ENSG00000198689
OMIM: 300231, Gene2Phenotype
SLC9A6 is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000198689
EnsemblGeneIds (GRCh37): ENSG00000198689
OMIM: 300231, Gene2Phenotype
SLC9A6 is in 10 panels
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Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
- Sources
-
- Expert Review Green
- Phenotypes
-
- Mental retardation, X-linked syndromic, Christianson type, 300243
- OMIM
- 300231
- Clinvar variants
- Variants in SLC9A6
- Penetrance
- None
- Panels with this gene
-
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary ataxia with onset in adulthood
- Ataxia and cerebellar anomalies - narrow panel
- DDG2P
- Hereditary ataxia
- Early onset or syndromic epilepsy
- Fetal anomalies
- Severe microcephaly
- Adult onset neurodegenerative disorder
History Filter Activity
9 Jan 2019, Gel status: 4
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1.
9 Jan 2019, Gel status: 4
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: SLC9A6 were changed from to Mental retardation, X-linked syndromic, Christianson type, 300243
19 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)gene: SLC9A6 was added gene: SLC9A6 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: SLC9A6 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)