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Inborn errors of metabolism

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

1 review

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Associated with phenotype in OMIM, not in G2P. One variant reported in 5 families, Hyperglycinuria 138500 results from heterozygous variant and Iminoglycinuria, digenic 242600 from homozygous variants
Created: 27 Feb 2017, 12:44 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Hyperglycinuria 138500; Iminoglycinuria, digenic 242600

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Hyperglycinuria
OMIM
605616
Clinvar variants
Variants in SLC6A20
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: SLC6A20 was added gene: SLC6A20 was added to Inborn errors of metabolism. Sources: Expert Review Green 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 Phenotypes for gene: SLC6A20 were set to Hyperglycinuria