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Cerebral Palsy v1.193 KMT2A Clare van Eyk reviewed gene: KMT2A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38693247; Phenotypes: Wiedemann-Steiner syndrome - #605130; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebral Palsy v0.158 KMT2A Zornitza Stark Marked gene: KMT2A as ready
Cerebral Palsy v0.158 KMT2A Zornitza Stark Gene: kmt2a has been classified as Green List (High Evidence).
Cerebral Palsy v0.158 KMT2A Zornitza Stark Classified gene: KMT2A as Green List (high evidence)
Cerebral Palsy v0.158 KMT2A Zornitza Stark Gene: kmt2a has been classified as Green List (High Evidence).
Cerebral Palsy v0.157 KMT2A Krithika Murali gene: KMT2A was added
gene: KMT2A was added to Cerebral Palsy. Sources: Expert list,Literature
Mode of inheritance for gene: KMT2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KMT2A were set to 33528536
Phenotypes for gene: KMT2A were set to Wiedemann-Steiner syndrome - #605130
Review for gene: KMT2A was set to GREEN
Added comment: Pathogenic/likely pathogenic variants identified in 5 unrelated patients with CP (Moreno-de-Luca et al 2021).
Sources: Expert list, Literature