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| Cerebral Palsy v1.193 | KAT6A | Clare van Eyk reviewed gene: KAT6A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38693247; Phenotypes: Arboleda-Tham syndrome MIM#616268; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.96 | KAT6A | Zornitza Stark Marked gene: KAT6A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.96 | KAT6A | Zornitza Stark Gene: kat6a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.96 | KAT6A | Zornitza Stark Classified gene: KAT6A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.96 | KAT6A | Zornitza Stark Gene: kat6a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.86 | KAT6A |
Luisa Weiss gene: KAT6A was added gene: KAT6A was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: KAT6A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KAT6A were set to 33528536 Phenotypes for gene: KAT6A were set to Arboleda-Tham syndrome MIM#616268 Review for gene: KAT6A was set to GREEN Added comment: Several cases in a large CP cohort study with Loss of function mutations in KAT6A, all mutations confrimed de novo Sources: Literature |
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