Ataxia - paediatric
Gene: SLC9A6

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

Created: 6 Jun 2021, 10:51 a.m.
Last Modified: 6 Jun 2021, 10:51 a.m.
Panel version: Imported from Mendeliome panel version 0.7878

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

Ataxia - paediatric Gene: SLC9A6