Genes in panel

TEST Undiagnosed metabolic disorders

Gene: SLC6A20

Green List (high evidence)

SLC6A20 (solute carrier family 6 member 20)
EnsemblGeneIds (GRCh38): ENSG00000163817
EnsemblGeneIds (GRCh37): ENSG00000163817
OMIM: 605616, Gene2Phenotype
SLC6A20 is in 5 panels

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Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Literature
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
OMIM
605616
Clinvar variants
Variants in SLC6A20
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Aug 2019, Gel status: 3

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

Sarah Leigh (Genomics England Curator)

gene: SLC6A20 was added gene: SLC6A20 was added to TEST Undiagnosed metabolic disorders. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Literature Mode of inheritance for gene: SLC6A20 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SLC6A20 were set to 24816252; 19033659