IDH1

isocitrate dehydrogenase (NADP(+)) 1, cytosolic
OMIM: 147700, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Red IDH1 in Peroxisomal disorders Level 3: Peroxisomal disorders Level 2: Metabolic disorders Version 1.20	review	Unknown	Sources Other
Red IDH1 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 IDH1 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 IDH1 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
Green IDH1 in Skeletal dysplasia Level 2: Musculoskeletal Version 8.34 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Phenotypes Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria OMIM:614875 metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria, MONDO:0013941 Maffucci syndrome, OMIM:614569 Maffucci syndrome, MONDO:0013808 Ollier disease/ Dyschondroplasia, OMIM:166000 Ollier disease, MONDO:0008145 Tags mosaicism
Amber IDH1 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 Expert Review Amber Literature Phenotypes Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria OMIM:614875 metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria, MONDO:0013941 Maffucci syndrome, OMIM:614569 Maffucci syndrome, MONDO:0013808 Ollier disease/ Dyschondroplasia, OMIM:166000 Ollier disease, MONDO:0008145 Tags mosaicism Q2_25_ promote_green
Green IDH1 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 Green Expert list Phenotypes Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria 614875 Maffucci syndrome 614569 Ollier disease/ Dyschondroplasia 166000
Amber IDH1 in Mitochondrial disorders Level 2: Mitochondrial Version 9.41 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria OMIM:614875 metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria, MONDO:0013941 Maffucci syndrome, OMIM:614569 Maffucci syndrome, MONDO:0013808 Ollier disease/ Dyschondroplasia, OMIM:166000 Ollier disease, MONDO:0008145 Tags mosaicism Q2_25_ promote_green