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Cerebral Palsy v1.193 ARID2 Clare van Eyk reviewed gene: ARID2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38693247; Phenotypes: Coffin-Siris syndrome 6, MIM#617808; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebral Palsy v1.77 ARID2 Zornitza Stark Marked gene: ARID2 as ready
Cerebral Palsy v1.77 ARID2 Zornitza Stark Gene: arid2 has been classified as Green List (High Evidence).
Cerebral Palsy v1.77 ARID2 Zornitza Stark Classified gene: ARID2 as Green List (high evidence)
Cerebral Palsy v1.77 ARID2 Zornitza Stark Gene: arid2 has been classified as Green List (High Evidence).
Cerebral Palsy v1.36 ARID2 Luisa Weiss gene: ARID2 was added
gene: ARID2 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: ARID2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ARID2 were set to 33528536
Phenotypes for gene: ARID2 were set to Coffin-Siris syndrome, MIM#617808
Review for gene: ARID2 was set to GREEN
Added comment: Large cohort study with three individual cases with CP and de novo ARID2 mutations (2 nonsense and 1 frameshift mutation)
Sources: Literature