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Genetic Epilepsy

Gene: SLC6A8

Green List (high evidence)

SLC6A8 (solute carrier family 6 member 8)
EnsemblGeneIds (GRCh38): ENSG00000130821
EnsemblGeneIds (GRCh37): ENSG00000130821
OMIM: 300036, Gene2Phenotype
SLC6A8 is in 12 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association. Seizures are part of the phenotype.
Sources: Expert list
Created: 31 Jan 2021, 9:55 a.m. | Last Modified: 16 May 2024, 5:47 a.m.
Panel Version: 0.2725

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

Phenotypes
Cerebral creatine deficiency syndrome 1, MIM# 300352

Publications

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Epilepsy Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Cerebral creatine deficiency syndrome 1, MIM# 300352
OMIM
300036
Clinvar variants
Variants in SLC6A8
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 May 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc6a8 has been classified as Green List (High Evidence).

16 May 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SLC6A8 were changed from Cerebral creatine deficiency syndrome 1, MIM# 300352 to Cerebral creatine deficiency syndrome 1, MIM# 300352

16 May 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SLC6A8 were changed from to Cerebral creatine deficiency syndrome 1, MIM# 300352

16 May 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SLC6A8 were set to

16 May 2024, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SLC6A8 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC6A8 was added gene: SLC6A8 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SLC6A8 was set to Unknown