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  3. IREB2
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Regression

Gene: IREB2

Green List (high evidence)
IREB2 (iron responsive element binding protein 2)
EnsemblGeneIds (GRCh38): ENSG00000136381
EnsemblGeneIds (GRCh37): ENSG00000136381
OMIM: 147582, Gene2Phenotype
IREB2 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Additional individual reported PMID 35602653
Created: 2 Jun 2022, 2:25 a.m. | Last Modified: 2 Jun 2022, 2:25 a.m.
Panel Version: 0.479
Two affected individuals from unrelated families with functional evidence including concordant phenotype in mice.
Sources: Expert Review
Created: 16 Mar 2022, 9:03 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia, MIM#618451

Publications

Created: 16 Mar 2022, 9:03 a.m.

Panel version: 0.479

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia, MIM#618451
OMIM
147582
Clinvar variants
Variants in IREB2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Jun 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: IREB2 were set to 30915432; 31243445; 11175792

16 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ireb2 has been classified as Green List (High Evidence).

16 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ireb2 has been classified as Green List (High Evidence).

16 Mar 2022, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: IREB2 was added gene: IREB2 was added to Regression. Sources: Expert Review Mode of inheritance for gene: IREB2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IREB2 were set to 30915432; 31243445; 11175792 Phenotypes for gene: IREB2 were set to Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia, MIM#618451 Review for gene: IREB2 was set to GREEN