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  2. Congenital ophthalmoplegia
  3. SLC9A6
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Congenital ophthalmoplegia

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)

Impaired eye movements including ophthalmoplegia are a feature.
Sources: Expert list
Created: 11 Nov 2020, 6:48 a.m.

Mode of inheritance
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, MIM# 300243

Created: 11 Nov 2020, 6:48 a.m.

Panel version: 0.34

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
  • Expert list
Phenotypes
  • Mental retardation, X-linked syndromic, Christianson type, MIM# 300243
OMIM
300231
Clinvar variants
Variants in SLC9A6
Penetrance
None
Panels with this gene

History Filter Activity

11 Nov 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc9a6 has been classified as Green List (High Evidence).

11 Nov 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc9a6 has been classified as Green List (High Evidence).

11 Nov 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC9A6 was added gene: SLC9A6 was added to Congenital ophthalmoplegia. Sources: Expert list 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, MIM# 300243 Review for gene: SLC9A6 was set to GREEN