IDH2

isocitrate dehydrogenase (NADP(+)) 2, mitochondrial
OMIM: 147650, Gene2Phenotype

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Green IDH2 in Dilated Cardiomyopathy and conduction defects Level 3: Cardiomyopathy Level 2: Cardiovascular disorders Version 1.97	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH Wessex and West Midlands GLH Expert Review Green Expert Review Phenotypes D-2-hydroxyglutaric aciduria 2 613657
Red IDH2 in Cytopenias and congenital anaemias Level 3: Anaemias and red cell disorders Level 2: Haematological disorders Version 1.123	review	Unknown	Sources Expert Review Red BRIDGE consortium (NIHRBR-RD) Phenotypes Acute myeloid leukaemia (AML) Tags somatic
Green IDH2 in Mosaic skin disorders - deep sequencing Level 2: Dermatology Version 3.27 Latest signed off version: v3.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources London North GLH NHS GMS Expert Review Green Phenotypes Ollier disease Maffucci syndrome
Red IDH2 in Vascular skin disorders Level 2: Dermatology Version 2.5 Latest signed off version: v2.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources London North GLH Expert Review Red NHS GMS Phenotypes Ollier disease Maffucci syndrome
Red IDH2 in Skeletal dysplasia Level 2: Musculoskeletal Version 8.33 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	Other	Sources Expert Review Red NHS GMS Phenotypes D-2-hydroxyglutaric aciduria 2, OMIM:613657 d-2-hydroxyglutaric aciduria 2, MONDO:0013345 Tags somatic
Green IDH2 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.642	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Mitochondrial isocitrate dehydrogenase deficiency (Organic acidurias) D-2-hydroxyglutaric aciduria 2, 613657 Tags mosaicism
Green IDH2 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	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources London North GLH NHS GMS Expert Review Green Phenotypes Mitochondrial isocitrate dehydrogenase deficiency (Organic acidurias) D-2-hydroxyglutaric aciduria 2, 613657
Red IDH2 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red NHS GMS Phenotypes D-2-hydroxyglutaric aciduria 2, OMIM:613657
Red IDH2 in Early onset or syndromic epilepsy Level 2: Neurology Version 8.120 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Wessex and West Midlands GLH NHS GMS Expert Review Phenotypes D-2-hydroxyglutaric aciduria 2, 613657
Green IDH2 in Intellectual disability Level 2: Developmental disorders Version 9.279 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Phenotypes D-2-hydroxyglutaric aciduria 2 613657
Green IDH2 in Paediatric or syndromic cardiomyopathy Level 2: Cardiology Version 7.96 Latest signed off version: v7.0 (30 Apr 2025) Component of the following Super Panels: Unexplained death in infancy and sudden unexplained death in childhood	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS South West GLH Expert Review Green Phenotypes Mitochondrial isocitrate dehydrogenase deficiency (Organic acidurias) D-2-hydroxyglutaric aciduria 2 D-2-hydroxyglutaric aciduria 2, 613657
Red IDH2 in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.13 Latest signed off version: v7.0 (30 Apr 2025)	review	Not set	Sources Expert Review Red London North GLH