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Ataxia - paediatric

Gene: SLC9A6

Green List (high evidence)

SLC9A6 (solute carrier family 9 member A6)
EnsemblGeneIds (GRCh38): ENSG00000198689
EnsemblGeneIds (GRCh37): ENSG00000198689
OMIM: 300231, Gene2Phenotype
SLC9A6 is in 15 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Angelman-like disorder. ID, seizures, microcephaly. More than 20 unrelated families reported.
Created: 6 Jun 2021, 10:51 a.m. | Last Modified: 6 Jun 2021, 10:51 a.m.
Panel Version: 0.7878

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Mental retardation, X-linked syndromic, Christianson type, MIM# 300243; MONDO:0010278

Publications

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
  • Royal Melbourne Hospital
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mental retardation, X-linked syndromic, Christianson type, 300243
OMIM
300231
Clinvar variants
Variants in SLC9A6
Penetrance
None
Panels with this gene

History Filter Activity

19 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: SLC9A6 was added gene: SLC9A6 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital 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) Phenotypes for gene: SLC9A6 were set to Mental retardation, X-linked syndromic, Christianson type, 300243