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2p21 region (includes PREPL and SLC3A1) Loss
ISCA-37440-Loss 1

Mitochondrial disorders
Gene: IDH1

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

3 reviews

Ida Ertmanska (Genomics England Curator)

I don't know

Comment on list classification: The rating of this gene has been updated to Amber following NHS Genomic Medicine Service approval. As all variants reported in this gene are somatic mosaic, they would not be reliably detected by a WGS test. Mosaic skin disorders - deep sequencing panel is more appropriate for IDH1 testing.
Created: 23 Mar 2026, 5:17 p.m. | Last Modified: 23 Mar 2026, 5:17 p.m.

Panel Version: 9.47

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Created: 11 Mar 2026, 11:31 a.m. | Last Modified: 11 Mar 2026, 11:31 a.m.

Panel Version: 9.43

Created: 11 Mar 2026, 11:31 a.m.
Last Modified: 11 Mar 2026, 11:31 a.m.
Panel version: 9.47

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, 1:17 p.m. | Last Modified: 16 Apr 2025, 1:17 p.m.

Panel Version: 8.31

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: 8.31

Comment on mode of pathogenicity: Gain of function variants associated with Maffucci syndrome and Ollier disease (PMID: 22057234)
Created: 16 Apr 2025, 1:08 p.m. | Last Modified: 16 Apr 2025, 1:08 p.m.

Panel Version: 8.29

Comment on mode of inheritance: Somatic variants thought to occur early in development, resulting in mosaicism
Created: 16 Apr 2025, 1:06 p.m. | Last Modified: 16 Apr 2025, 1:06 p.m.

Panel Version: 8.28

Created: 16 Apr 2025, 1:06 p.m.
Last Modified: 16 Apr 2025, 1:06 p.m.
Panel version: 8.31

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

I don't know

Cytosolic NADP+-dependent isocitrate dehydrogenase 1 superactivity. IDH1 is a dimeric cytosolic NADP-dependent isocitrate dehydrogenase (EC 1.1.1.42) that catalyzes decarboxylation of isocitrate into alpha-ketoglutarate.
The IDH1 gene is included in International classification of inherited metabolic disorders (ICIMD), Disorders of the Krebs cycle.
Sources: Literature
Created: 21 Jul 2021, 8:10 a.m. | Last Modified: 21 Jul 2021, 8:33 a.m.

Panel Version: 2.47

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria

Publications

PMID: 33340416

Created: 21 Jul 2021, 8:10 a.m.
Last Modified: 21 Jul 2021, 8:33 a.m.
Panel version: 2.47

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Amber
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

23 Mar 2026, Gel status: 2

Entity classified by Genomics England curator

Ida Ertmanska (Genomics England Curator)

Gene: idh1 has been classified as Amber List (Moderate Evidence).

11 Mar 2026, Gel status: 3

Removed Tag

Ida Ertmanska (Genomics England Curator)

Tag Q2_25_ promote_green was removed from gene: IDH1.

11 Mar 2026, Gel status: 3

Added New Source, Added New Source, Status Update

Ida Ertmanska (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