SLC36A2

solute carrier family 36 member 2
OMIM: 608331, Gene2Phenotype

3 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 3 panels
Red SLC36A2 in Nephrocalcinosis or nephrolithiasis Level 2: Renal Version 5.5 Latest signed off version: v5.0 (30 Apr 2025) Component of the following Super Panels: Unexplained young onset end-stage renal disease	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert
Red SLC36A2 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.642	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red UKGTN Radboud University Medical Center, Nijmegen Literature Phenotypes Hyperglycinuria 138500 AD Iminoglycinuria, digenic 242600 AR Hyperglycinuria 138500 Iminoglycinuria, digenic 242600 Tags monogenic-polygenic
Red SLC36A2 in Likely inborn error of metabolism Level 2: Metabolic Version 8.91 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Red Phenotypes Iminoglycinuria, digenic 242600 Hyperglycinuria 138500 Hyperglycinuria AR