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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 |