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Intellectual disability

Gene: IREB2

No list

IREB2 (iron responsive element binding protein 2)
EnsemblGeneIds (GRCh38): ENSG00000136381
EnsemblGeneIds (GRCh37): ENSG00000136381
OMIM: 147582, Gene2Phenotype
IREB2 is in 1 panel

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Two affected individuals from unrelated families with functional evidence including highly specific, concordant phenotype in mice.
Sources: Expert list
Created: 8 Feb 2020, 7:18 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
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

8 Feb 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: IREB2 was added gene: IREB2 was added to Intellectual disability. Sources: Expert list 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 gene: IREB2 was marked as current diagnostic