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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 |