Mosaic skin disorders

Gene: IDH2

Green List (high evidence)

IDH2 (isocitrate dehydrogenase (NADP(+)) 2, mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000182054
EnsemblGeneIds (GRCh37): ENSG00000182054
OMIM: 147650, Gene2Phenotype
IDH2 is in 8 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Maffucci syndrome; Ollier disease

Mathew Wallis (Tasmanian Clinical Genetics Service)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • NHS GMS
Phenotypes
  • Maffucci syndrome
  • Ollier disease
Tags
somatic
OMIM
147650
Clinvar variants
Variants in IDH2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: idh2 has been classified as Green List (High Evidence).

18 Feb 2021, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag somatic tag was added to gene: IDH2.

18 Feb 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: IDH2 was added gene: IDH2 was added to Mosaic skin disorders. Sources: Expert Review Green,NHS GMS,Genomics England PanelApp Mode of inheritance for gene: IDH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: IDH2 were set to 22057234 Phenotypes for gene: IDH2 were set to Maffucci syndrome; Ollier disease