SLC25A32

solute carrier family 25 member 32
OMIM: 610815, Gene2Phenotype

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Green SLC25A32 in Likely inborn error of metabolism - targeted testing not possible Version 4.137 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes ?Exercise intolerance, riboflavin-responsive Tags gene-checked
Green SLC25A32 in Possible mitochondrial disorder - nuclear genes Version 3.105 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes ?Exercise intolerance, riboflavin-responsive, 616839 Tags treatable gene-checked
Green SLC25A32 in Mitochondrial disorders Level 3: Mitochondrial Level 2: Metabolic disorders Version 4.168 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes ?Exercise intolerance, riboflavin-responsive 616839 Tags treatable gene-checked
Red SLC25A32 in Hereditary ataxia with onset in adulthood Version 4.34 Latest signed off version: v4.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Phenotypes Riboflavin-responsive exericise intolerance, 616839
Amber SLC25A32 in Severe Paediatric Disorders Version 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Amber Expert list Phenotypes ?Parkinsonism-dystonia, infantile, 2, 618049