Likely inborn error of metabolism
Gene: IDH1

IDH1 (isocitrate dehydrogenase (NADP(+)) 1, cytosolic)
EnsemblGeneIds (GRCh38): ENSG00000138413
EnsemblGeneIds (GRCh37): ENSG00000138413
OMIM: 147700, Gene2Phenotype
IDH1 is in 8 panels

3 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on mode of inheritance: All IDH1 variants reported to be associated with MIMs #614875, #614569 and #166000 are somatic mosaic.
Created: 12 Mar 2026, 2:23 p.m. | Last Modified: 12 Mar 2026, 2:23 p.m.

Panel Version: 8.95

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Created: 12 Mar 2026, 10:16 a.m. | Last Modified: 12 Mar 2026, 10:16 a.m.

Panel Version: 8.94

Created: 12 Mar 2026, 10:16 a.m.
Last Modified: 12 Mar 2026, 10:16 a.m.
Panel version: 8.94

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Numerous reports of IDH1 variants associated with OMIM:614875, OMIM:614569 and OMIM:166000 (PMID: 24049096; 22025298; 22057234; 22057236).
Created: 16 Apr 2025, 1:18 p.m. | Last Modified: 16 Apr 2025, 1:18 p.m.

Panel Version: 7.25

Comment on list classification: Somatic variants relevant to this gene, potentially resulting in mosaicism
Created: 16 Apr 2025, 1:09 p.m. | Last Modified: 16 Apr 2025, 1:09 p.m.

Panel Version: 7.25

Comment on mode of inheritance: Somatic variants thought to occur early in development, resulting in mosaicism
Created: 16 Apr 2025, 1:07 p.m. | Last Modified: 16 Apr 2025, 1:07 p.m.

Panel Version: 7.23

Created: 16 Apr 2025, 1:07 p.m.
Last Modified: 16 Apr 2025, 1:07 p.m.
Panel version: 7.25

Andžela Lazdāne (Children's Clinical University Hospital of Latvia)

I don't know

Isocitrate dehydrogenase 1 deficiency.

IEM Nosology Group (IEMbase):Disorders of the Krebs cycle. The IDH1 gene is included in International classification of inherited metabolic disorders (ICIMD), Disorders of the Krebs cycle.
Sources: Literature
Created: 21 Jul 2021, 12:03 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Failure to thrive; Psychomotor delay; Feeding difficulties; Increased D-2-Hydroxyglutaric acid in urine

Publications

PMID: 33340416

Created: 21 Jul 2021, 12:03 p.m.

Panel version: 2.154

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Green
NHS GMS

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

OMIM

147700

Clinvar variants

Variants in IDH1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

12 Mar 2026, Gel status: 3

Set mode of inheritance

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of inheritance for gene: IDH1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

12 Mar 2026, Gel status: 3

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q2_25_ promote_green was removed from gene: IDH1.

12 Mar 2026, Gel status: 3

Added New Source, Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source NHS GMS was added to IDH1. Source Expert Review Green was added to IDH1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

16 Apr 2025, Gel status: 2