Cerebral Palsy
Gene: SLC5A6
SLC5A6 (solute carrier family 5 member 6)
EnsemblGeneIds (GRCh38): ENSG00000138074
EnsemblGeneIds (GRCh37): ENSG00000138074
OMIM: 604024, Gene2Phenotype
SLC5A6 is in 8 panels
EnsemblGeneIds (GRCh38): ENSG00000138074
EnsemblGeneIds (GRCh37): ENSG00000138074
OMIM: 604024, Gene2Phenotype
SLC5A6 is in 8 panels
1 review
Luisa Weiss (University of Adelaide)
21112253 presents a clinical overview of 11 children with biallelic SLC6A3 mutations, 7 of which were initially diagnosed with CP. In addition, two more CP cohort studies with one patient each harboring SLC6A3 mutations.
Sources: LiteratureCreated: 31 Jul 2023, 5:16 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Parkinsonism-dystonia, infantile, 1 MIM#613135
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Parkinsonism-dystonia, infantile, 1 MIM#613135
- OMIM
- 604024
- Clinvar variants
- Variants in SLC5A6
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
2 Aug 2023, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: slc5a6 has been classified as Green List (High Evidence).
2 Aug 2023, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: slc5a6 has been classified as Green List (High Evidence).
31 Jul 2023, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Luisa Weiss (University of Adelaide)gene: SLC5A6 was added gene: SLC5A6 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: SLC5A6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC5A6 were set to 33528536; 21112253; 33098801 Phenotypes for gene: SLC5A6 were set to Parkinsonism-dystonia, infantile, 1 MIM#613135 Review for gene: SLC5A6 was set to GREEN