Aminoacidopathy
Gene: SLC6A8EnsemblGeneIds (GRCh38): ENSG00000130821
EnsemblGeneIds (GRCh37): ENSG00000130821
OMIM: 300036, Gene2Phenotype
SLC6A8 is in 12 panels
1 review
Sangavi Sivagnanasundram (Melbourne Health)
Well-established gene disease association with reported individuals having error in creatine transport.
Classified Definitive by Aminoacidopathy GCEP on 10/02/2020 - https://search.clinicalgenome.org/CCID:006200
Sources: ClinGenCreated: 18 Jul 2024, 1:02 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
creatine transporter deficiency MONDO:0010305
Publications
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Green
- Phenotypes
-
- creatine transporter deficiency MONDO:0010305
- OMIM
- 300036
- Clinvar variants
- Variants in SLC6A8
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: slc6a8 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: slc6a8 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Sangavi Sivagnanasundram (Melbourne Health)gene: SLC6A8 was added gene: SLC6A8 was added to Aminoacidopathy. Sources: ClinGen 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 creatine transporter deficiency MONDO:0010305 Review for gene: SLC6A8 was set to GREEN