Aminoacidopathy
Gene: SLC6A20
SLC6A20 (solute carrier family 6 member 20)
EnsemblGeneIds (GRCh38): ENSG00000163817
EnsemblGeneIds (GRCh37): ENSG00000163817
OMIM: 605616, Gene2Phenotype
SLC6A20 is in 3 panels
EnsemblGeneIds (GRCh38): ENSG00000163817
EnsemblGeneIds (GRCh37): ENSG00000163817
OMIM: 605616, Gene2Phenotype
SLC6A20 is in 3 panels
1 review
Sangavi Sivagnanasundram (Melbourne Health)
Only one family reported with a rare missense variant and a clinical phenotype consistent with an inborn error of amino acid metabolism.
Cases have been reported in 19033659 and 24816252 however the variant is too common for a mendelian disease.
No other new publications have been released supporting the gene-disease association with relation to evidence of a biochemical abnormality.
Sources: OtherCreated: 18 Jul 2024, 10:41 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hyperglycinuria MONDO:0007677
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Phenotypes
-
- Hyperglycinuria MONDO:0007677
- OMIM
- 605616
- Clinvar variants
- Variants in SLC6A20
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
19 Jul 2024, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: slc6a20 has been classified as Red List (Low Evidence).
19 Jul 2024, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: slc6a20 has been classified as Red List (Low Evidence).
18 Jul 2024, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Sangavi Sivagnanasundram (Melbourne Health)gene: SLC6A20 was added gene: SLC6A20 was added to Aminoacidopathy. Sources: Other Mode of inheritance for gene: SLC6A20 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SLC6A20 were set to 36820062; 19033659; 24816252 Phenotypes for gene: SLC6A20 were set to Hyperglycinuria MONDO:0007677 Review for gene: SLC6A20 was set to RED