Cerebral Palsy
Gene: IREB2EnsemblGeneIds (GRCh38): ENSG00000136381
EnsemblGeneIds (GRCh37): ENSG00000136381
OMIM: 147582, Gene2Phenotype
IREB2 is in 4 panels
1 review
Clare van Eyk (University of Adelaide)
Single individual with compound heterozygous LP/P variants in IREB2 and hypotonic quadriplegia, severe DD, microcytic anemia, elevated ferritin, retinal dystrophy.
Sources: LiteratureCreated: 2 Sep 2024, 6:01 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia, MIM#618451
Publications
- PMID: 39213953
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Phenotypes
-
- Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia, MIM#618451
- OMIM
- 147582
- Clinvar variants
- Variants in IREB2
- Penetrance
- None
- Publications
-
- PMID: 39213953
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ireb2 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ireb2 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Clare van Eyk (University of Adelaide)gene: IREB2 was added gene: IREB2 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: IREB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: IREB2 were set to PMID: 39213953 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 RED