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  2. Miscellaneous Metabolic Disorders
  3. SLC6A8
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Miscellaneous Metabolic Disorders

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.
Sources: Expert list
Created: 31 Jan 2021, 9:55 a.m.

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

Phenotypes
Cerebral creatine deficiency syndrome 1, MIM# 300352

Publications

Created: 31 Jan 2021, 9:55 a.m.

Panel version: 0.83

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert list
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

31 Jan 2021, 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).

31 Jan 2021, 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).

31 Jan 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC6A8 was added gene: SLC6A8 was added to Miscellaneous Metabolic Disorders. Sources: Expert list Mode of inheritance for gene: SLC6A8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: SLC6A8 were set to 27604308; 16738945 Phenotypes for gene: SLC6A8 were set to Cerebral creatine deficiency syndrome 1, MIM# 300352 Review for gene: SLC6A8 was set to GREEN