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  3. SLC36A2
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Renal Tubulopathies and related disorders

Gene: SLC36A2

Amber List (moderate evidence)
SLC36A2 (solute carrier family 36 member 2)
EnsemblGeneIds (GRCh38): ENSG00000186335
EnsemblGeneIds (GRCh37): ENSG00000186335
OMIM: 608331, Gene2Phenotype
SLC36A2 is in 4 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Comment on list classification: Biochemical phenotypes without adverse clinical consequences
Created: 10 Sep 2024, 4:26 a.m. | Last Modified: 10 Sep 2024, 4:26 a.m.
Panel Version: 1.15
Created: 10 Sep 2024, 4:26 a.m.
Last Modified: 10 Sep 2024, 4:26 a.m.
Panel version: 1.15

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

Inborn error of renal tubular amino acid transport which can present with renal oxalate stones.

5 families with iminoglycinuria or hyperglycinuria with classic semidominant inheritance pattern in which 2 nonfunctional alleles conferred the IG phenotype whereas 1 nonfunctional allele was sufficient to confer the HG phenotype. Mutations in SLC36A2 that retained residual transport activity resulted in the IG phenotype only when combined with haploinsufficiency of the imino acid transporter SLC6A20 or deficiency of the neutral amino acid transporter SLC6A19. Additional homozygote reported in 2015.
Created: 2 Dec 2022, 12:29 a.m. | Last Modified: 2 Dec 2022, 12:29 a.m.
Panel Version: 0.16

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Hyperglycinuria MIM#138500; Iminoglycinuria, digenic MIM#242600; Disorders of amino acid transport

Publications

Created: 2 Dec 2022, 12:29 a.m.
Last Modified: 2 Dec 2022, 12:29 a.m.
Panel version: 0.16

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
  • Literature
Phenotypes
  • Iminoglycinuria, digenic MIM#242600
  • Hyperglycinuria MIM#138500
  • Disorders of amino acid transport
OMIM
608331
Clinvar variants
Variants in SLC36A2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Sep 2024, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: slc36a2 has been classified as Amber List (Moderate Evidence).

2 Dec 2022, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: slc36a2 has been classified as Green List (High Evidence).

1 Dec 2022, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC36A2 was added gene: SLC36A2 was added to Renal Tubulopathies and related disorders. Sources: Literature,Victorian Clinical Genetics Services,Expert Review Amber Mode of inheritance for gene: SLC36A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SLC36A2 were set to 26141664; 19033659; 27604308 Phenotypes for gene: SLC36A2 were set to Iminoglycinuria, digenic MIM#242600; Hyperglycinuria MIM#138500; Disorders of amino acid transport