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Inborn errors of metabolism

Gene: SLC36A2

Red List (low evidence)

SLC36A2 (solute carrier family 36 member 2)
EnsemblGeneIds (GRCh38): ENSG00000186335
EnsemblGeneIds (GRCh37): ENSG00000186335
OMIM: 608331, Gene2Phenotype
SLC36A2 is in 3 panels

2 reviews

Arianna Tucci (Genomics England Curator)

gene: SLC36A2 review by Arianna Tucci

19033659 showed the semidominant inheritance pattern in which 2 nonfunctional alleles confer the iminoglycinuria phenotype, whereas 1 nonfunctional allele is sufficient to confer the hyperglycinuria phenotype.PLease also note that iminoglycinuria is a digenic phenotype, that can be caused by homozygous variant in the SLC36A2 gene combined with heterozygous variant in the SLC6A20 gene (605616) or homozygous variant in the SLC6A19 gene (608893).
Created: 23 Feb 2017, 5:16 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Hyperglycinuria 138500; Iminoglycinuria, digenic 242600

Publications

Sarah Leigh (Genomics England Curator)

Comment on list classification: because either digenic or insufficient variants / unrelated cases reported in the monogenic form
Created: 19 Jan 2017, 11:40 a.m.
Digenic with in Iminoglycinuria, digenic (OMIM 242600) with SLC6A20 or SLC6A19. In a pedigree of Coptic-Egyptians 4 individuals who were heterozygous for splice variant IVS1 (+1G-A) had Hyperglycinuria (OMIM 138500) and the one individual who was homozygous for this variant had Iminoglycinuria (PMID 19033659)
Created: 19 Jan 2017, 11:39 a.m.

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Red
Phenotypes
  • Iminoglycinuria, digenic 242600
  • Hyperglycinuria 138500
  • Hyperglycinuria AR
OMIM
608331
Clinvar variants
Variants in SLC36A2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 1

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to SLC36A2. Source London North GLH was added to SLC36A2.

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: SLC36A2 was added gene: SLC36A2 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: SLC36A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SLC36A2 were set to 27604308; 19033659 Phenotypes for gene: SLC36A2 were set to Iminoglycinuria, digenic 242600; Hyperglycinuria 138500; Hyperglycinuria AR