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Cytopenias and congenital anaemias

Gene: IDH1

Red List (low evidence)

IDH1 (isocitrate dehydrogenase (NADP(+)) 1, cytosolic)
EnsemblGeneIds (GRCh38): ENSG00000138413
EnsemblGeneIds (GRCh37): ENSG00000138413
OMIM: 147700, Gene2Phenotype
IDH1 is in 9 panels

2 reviews

Arianna Tucci (Genomics England Curator)

Red List (low evidence)

Mode of inheritance
Unknown

Phenotypes
Acute myeloid leukaemia (AML)

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
Unknown

Phenotypes
Acute myeloid leukaemia (AML)

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Acute myeloid leukaemia (AML)
Tags
somatic
OMIM
147700
Clinvar variants
Variants in IDH1
Penetrance
Complete
Panels with this gene

History Filter Activity

11 Mar 2017, Gel status: 1

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.

9 Mar 2017, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

IDH1 was added to Cytopaenias and congenital anaemiaspanel. Source: Expert Review Red

17 Feb 2017, Gel status: 0

Added New Source

Louise Daugherty (Genomics England Curator)

IDH1 was added to Cytopaenias and congenital anaemiaspanel. Sources: BRIDGE consortium (NIHRBR-RD)

17 Feb 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

IDH1 was created by LouiseD