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  3. IDH1
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Likely inborn error of metabolism

Gene: IDH1

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

2 reviews

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

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 Amber
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
OMIM
147700
Clinvar variants
Variants in IDH1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Apr 2025, Gel status: 2

Added Tag, Added Tag

Sarah Leigh (Genomics England Curator)

Tag mosaicism tag was added to gene: IDH1. Tag Q2_25_ promote_green tag was added to gene: IDH1.

16 Apr 2025, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

16 Apr 2025, Gel status: 0

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: IDH1 were set to 33340416

16 Apr 2025, Gel status: 0

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

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

16 Apr 2025, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: IDH1 were changed from Failure to thrive; Psychomotor delay; Feeding difficulties; Increased D-2-Hydroxyglutaric acid in urine to 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

23 May 2022, Gel status: 0

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: IDH1 were set to PMID: 33340416

21 Jul 2021, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

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

gene: IDH1 was added gene: IDH1 was added to Inborn errors of metabolism. Sources: Literature Mode of inheritance for gene: IDH1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IDH1 were set to PMID: 33340416 Phenotypes for gene: IDH1 were set to Failure to thrive; Psychomotor delay; Feeding difficulties; Increased D-2-Hydroxyglutaric acid in urine Review for gene: IDH1 was set to AMBER