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Intellectual disability
Gene: IREB2

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

4 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Created: 24 Feb 2025, 6:15 p.m. | Last Modified: 24 Feb 2025, 6:15 p.m.

Panel Version: 8.97

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 24 Feb 2025, 6:15 p.m.
Last Modified: 24 Feb 2025, 6:15 p.m.
Panel version: 8.97

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There is sufficient evidence available (three unrelated cases) for the promotion of this gene to green rating in the next GMS update.
Created: 23 Jul 2024, 11:06 a.m. | Last Modified: 23 Jul 2024, 11:06 a.m.

Panel Version: 6.71

PMID:35602653 reported a 7-year-old male patient with compound heterozygous missense variants in IREB2 gene and with clinical manifestations including a profound global neurodevelopmental delay and dystonia.

This gene has been associated with relevant phenotypes in OMIM (MIM #618451) and Gene2Phenotype (with 'moderate' rating on the DD panel).
Created: 23 Jul 2024, 11:03 a.m. | Last Modified: 23 Jul 2024, 11:03 a.m.

Panel Version: 6.68

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia, OMIM:618451

Publications

35602653

Created: 23 Jul 2024, 11:03 a.m.
Last Modified: 23 Jul 2024, 11:03 a.m.
Panel version: 6.68

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

Created: 3 Aug 2020, 2:03 p.m.
Last Modified: 3 Aug 2020, 2:03 p.m.
Panel version: 3.223

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

Created: 8 Feb 2020, 7:18 a.m.

Panel version: 3.0

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS

Phenotypes

Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia, OMIM:618451

OMIM

147582

Clinvar variants

Variants in IREB2

Penetrance

None

Publications

Panels with this gene

History Filter Activity

25 Feb 2025, Gel status: 3

Removed Tag, Removed Tag

Sarah Leigh (Genomics England Curator)

Tag watchlist was removed from gene: IREB2. Tag Q3_24_promote_green was removed from gene: IREB2.

24 Feb 2025, Gel status: 3

Added New Source, Added New Source, Status Update

Sarah Leigh (Genomics England Curator)

Source NHS GMS was added to IREB2. Source Expert Review Green was added to IREB2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

23 Jul 2024, Gel status: 2