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| Miscellaneous Metabolic Disorders v0.322 | SLC36A2 |
Bryony Thompson changed review comment from: 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. Sources: Literature; to: 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. Sources: Literature |
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| Miscellaneous Metabolic Disorders v0.322 | SLC36A2 | Bryony Thompson Classified gene: SLC36A2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.322 | SLC36A2 | Bryony Thompson Added comment: Comment on list classification: Biochemical phenotypes without adverse clinical consequences | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.322 | SLC36A2 | Bryony Thompson Gene: slc36a2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.321 | SLC36A2 |
Bryony Thompson gene: SLC36A2 was added gene: SLC36A2 was added to Miscellaneous Metabolic Disorders. Sources: Literature Mode of inheritance for gene: SLC36A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SLC36A2 were set to 19033659; 26141664; 27604308 Phenotypes for gene: SLC36A2 were set to Hyperglycinuria MIM#138500; Iminoglycinuria, digenic MIM#242600; Disorders of amino acid transport Review for gene: SLC36A2 was set to GREEN Added comment: 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. Sources: Literature |
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