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Fetal anomalies

Gene: SLC6A8

Amber List (moderate evidence)

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

1 review

Daniel Flanagan (Victorian Clinical Genetics Services)

I don't know

X-linked recessive SLC6A8 variants cause severe intellectual disability, speech and behavioral abnormalities, and seizures. Some patients have been reported to have microcephaly. Additionally, short and tall stature has been reported.
Created: 13 Feb 2022, 10:14 p.m. | Last Modified: 13 Feb 2022, 10:14 p.m.
Panel Version: 0.3372

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 Amber
  • Genomics England PanelApp
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

14 Feb 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc6a8 has been classified as Amber List (Moderate Evidence).

14 Feb 2022, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SLC6A8 were changed from X-LINKED CREATINE DEFICIENCY SYNDROME to Cerebral creatine deficiency syndrome 1 (MIM#300352)

14 Feb 2022, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SLC6A8 were set to

14 Feb 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc6a8 has been classified as Amber List (Moderate Evidence).

24 Oct 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC6A8 was added gene: SLC6A8 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: SLC6A8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: SLC6A8 were set to X-LINKED CREATINE DEFICIENCY SYNDROME