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  2. Renal Tubulopathies and related disorders
  3. SLC6A20
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Renal Tubulopathies and related disorders

Gene: SLC6A20

Red List (low evidence)
SLC6A20 (solute carrier family 6 member 20)
EnsemblGeneIds (GRCh38): ENSG00000163817
EnsemblGeneIds (GRCh37): ENSG00000163817
OMIM: 605616, Gene2Phenotype
SLC6A20 is in 3 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

The originally reported missense is too common for Mendelian disease and I could only find a single family reported with segregation evidence
PMID: 19033659, 24816252 - T199M which was reported in the original 2008 publication has an AF of ~10% in gnomAD v4.1 and is classified as benign by many labs in ClinVar. There are no reported LP/P variants in this gene
PMID: 36820062 - A rare missense (c.1072T>C, p.Cys358Arg) is reported to segregate with nephrolithiasis in 3 family members
Created: 4 May 2024, 3:15 a.m. | Last Modified: 4 May 2024, 3:15 a.m.
Panel Version: 1.12

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hyperglycinuria MONDO:0007677

Publications

Created: 4 May 2024, 3:15 a.m.
Last Modified: 4 May 2024, 3:15 a.m.
Panel version: 1.12

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Multiple families reported, predisposition to renal stones.
Sources: Expert list
Created: 31 Jan 2021, 10:01 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hyperglycinuria, MIM# 138500

Publications

Created: 31 Jan 2021, 10:01 a.m.

Panel version: Imported from Nephrolithiasis and Nephrocalcinosis panel version 0.33

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert list
  • Expert list
Phenotypes
  • Hyperglycinuria, MIM# 138500
OMIM
605616
Clinvar variants
Variants in SLC6A20
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 May 2024, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: slc6a20 has been classified as Red List (Low Evidence).

4 May 2024, Gel status: 1

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: SLC6A20 were set to 24816252; 19033659

4 May 2024, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: slc6a20 has been classified as Red List (Low Evidence).

1 Dec 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC6A20 was added gene: SLC6A20 was added to Renal Tubulopathies and related disorders. Sources: Expert list,Expert Review Green Mode of inheritance for gene: SLC6A20 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SLC6A20 were set to 24816252; 19033659 Phenotypes for gene: SLC6A20 were set to Hyperglycinuria, MIM# 138500