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Cerebral Palsy v1.378 IREB2 Zornitza Stark Marked gene: IREB2 as ready
Cerebral Palsy v1.378 IREB2 Zornitza Stark Gene: ireb2 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.378 IREB2 Zornitza Stark Classified gene: IREB2 as Red List (low evidence)
Cerebral Palsy v1.378 IREB2 Zornitza Stark Gene: ireb2 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.367 IREB2 Clare van Eyk 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
Added comment: Single individual with compound heterozygous LP/P variants in IREB2 and hypotonic quadriplegia, severe DD, microcytic anemia, elevated ferritin, retinal dystrophy.
Sources: Literature