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  3. SLC6A5
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Cerebral Palsy

Gene: SLC6A5

Red List (low evidence)
SLC6A5 (solute carrier family 6 member 5)
EnsemblGeneIds (GRCh38): ENSG00000165970
EnsemblGeneIds (GRCh37): ENSG00000165970
OMIM: 604159, Gene2Phenotype
SLC6A5 is in 10 panels

1 review

Clare van Eyk (University of Adelaide)

I don't know

2 individuals with mono-allelic pathogenic stopgain variants reported in large-scale exome sequencing study (PMID: 38693247).
Sources: Literature
Created: 27 May 2024, 1:41 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Hyperekplexia 3, MIM#614618

Publications

Created: 27 May 2024, 1:41 p.m.

Panel version: 1.194

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Hyperekplexia 3, MIM#614618
OMIM
604159
Clinvar variants
Variants in SLC6A5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 May 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc6a5 has been classified as Red List (Low Evidence).

30 May 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc6a5 has been classified as Red List (Low Evidence).

27 May 2024, Gel status: 0

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

Clare van Eyk (University of Adelaide)

gene: SLC6A5 was added gene: SLC6A5 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: SLC6A5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SLC6A5 were set to PMID: 38693247 Phenotypes for gene: SLC6A5 were set to Hyperekplexia 3, MIM#614618 Review for gene: SLC6A5 was set to AMBER