Undiagnosed metabolic disordersGene: SLC36A2
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
Hyperglycinuria 138500; Iminoglycinuria, digenic 242600
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.
Source: Expert Review Amber was removed from gene: SLC36A2
Construction of “Undiagnosed Metabolic Disorders” (UDM) panel • The 614 genes from the neurometabolic gene panel (PMID: 27604308) added • Green genes downloaded from V1 metabolic panels (Cerebral folate deficiency, Congenital disorders of glycosylation, Hyperammonaemia, Ketotic hypoglycaemia, Mitochondrial disorders, Mucopolysaccharideosis, Gaucher, Fabry, Peroxisomal disorders), sources replaced with "Expert review green", then loaded as a review onto UDM panel, resulting in 367 green genes and 333 red (therefore 86 new green genes included from the additional metabolic panels that weren't previously on the UDM panel) • Downloaded green genes from all panels. Removed genes from none V1 panels. Removed genes from the metabolic panels mentioned above. Compared the remaining genes with the red genes from UDM panel. Loaded as an "Expert review Amber" review to the overlapping genes, (the panel name where the genes came from was used as the phenotype) • Used variant information from PMID 27604308 to review the genes on this panel • Reviewed genes on UDM panel with genes from Emory "Inherited Metabolic Disorders: Sequencing Panel" and UKGTN “Inborn Errors of Metabolism 226 panel”, changing status where appropriate, added 14 UKGTN genes that had not be listed before • Review 10 red genes that had not previously been reviewed, 4/10 were reclassified as green • Review the remaining 145 red genes that had not previously been reviewed (shared between reviewers EM, RF, LD, AT, HB, ON & SL), resulting in 60 green, 11 amber, 70 red, 4 I don’t know reviews) • Reviewed genes from PMID: 24816252 as a publication to genes found in the Inborn error or metabolism Genes metabolomics GWAS paper (figure 5). 2 new genes added
SLC36A2 was added to Undiagnosed metabolic disorderspanel. Source: Expert Review Amber
Publications for SLC36A2 were set to 27604308; 19033659
This gene has been classified as Red List (Low Evidence).
SLC36A2 was added to Undiagnosed metabolic disorderspanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN
Model of inheritance for gene SLC36A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene SLC36A2 were set to Hyperglycinuria 138500 AD; Iminoglycinuria, digenic 242600 AR
SLC36A2 was added to Undiagnosed metabolic disorderspanel. Sources: Literature
SLC36A2 was created by sleigh