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  3. IDH1
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Mosaic skin disorders

Gene: IDH1

Green List (high evidence)
IDH1 (isocitrate dehydrogenase (NADP(+)) 1, cytosolic)
EnsemblGeneIds (GRCh38): ENSG00000138413
EnsemblGeneIds (GRCh37): ENSG00000138413
OMIM: 147700, Gene2Phenotype
IDH1 is in 6 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

Created: 18 Feb 2021, 7:36 a.m.
Last Modified: 18 Feb 2021, 7:36 a.m.
Panel version: 0.4

Mathew Wallis (Tasmanian Clinical Genetics Service)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

Created: 18 Feb 2021, 6:19 a.m.
Last Modified: 18 Feb 2021, 6:19 a.m.
Panel version: 0.1

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
147700
Clinvar variants
Variants in IDH1
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: idh1 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: IDH1.

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: IDH1 was added gene: IDH1 was added to Mosaic skin disorders. Sources: Expert Review Green,NHS GMS,Genomics England PanelApp Mode of inheritance for gene: IDH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: IDH1 were set to 22057234 Phenotypes for gene: IDH1 were set to Maffucci syndrome; Ollier disease