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Intellectual disability

Gene: IREB2

Amber List (moderate evidence)

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

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: Phenotype is appropriate for this panel, but additional cases necessary to support causation. Therefore rated Amber, awaiting further publications/clinical evidence (added to watchlist).
Created: 3 Aug 2020, 2:06 p.m. | Last Modified: 3 Aug 2020, 2:06 p.m.
Panel Version: 3.224
Two unrelated patients described with compound heterozygous variants in the IREB2 gene.

PMID: 30915432 (2019) - 16-year-old male with early-onset neurodegeneration with choreoathetosis, microcytic anaemia, and profound early global developmental delays. Exome sequencing revealed compound heterozygous nonsense variants (c.[1069G>T, p.Gly357*];[1255C>T, p.Arg419*]). Studies of patient cells provide evidence of mitochondrial dysfunction and absence of IREB2 activity.

PMID: 31243445 (2019) - 10-year-old male with a progressive neurological disease including hypotonia, spasticity, mild microcytic anaemia, and profound early global developmental delays. Compound heterozygous variants in the IREB2 gene were identified ([c.2353G>A, p.Gly785Arg];[c.1329_1331del, p.Ser444del]). No functional studies were performed to validate the pathogenicity of these variants.
Created: 3 Aug 2020, 2:03 p.m. | Last Modified: 3 Aug 2020, 2:03 p.m.
Panel Version: 3.223

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

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
  • Expert Review Amber
Phenotypes
  • Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia, MIM#618451
Tags
watchlist
OMIM
147582
Clinvar variants
Variants in IREB2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Aug 2020, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag watchlist tag was added to gene: IREB2.

3 Aug 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: ireb2 has been classified as Amber List (Moderate Evidence).

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