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Cerebral Palsy v1.235 SMC3 Zornitza Stark Marked gene: SMC3 as ready
Cerebral Palsy v1.235 SMC3 Zornitza Stark Gene: smc3 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.235 SMC3 Zornitza Stark Classified gene: SMC3 as Red List (low evidence)
Cerebral Palsy v1.235 SMC3 Zornitza Stark Gene: smc3 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.194 SMC3 Clare van Eyk gene: SMC3 was added
gene: SMC3 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: SMC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SMC3 were set to PMID: 38693247
Phenotypes for gene: SMC3 were set to Cornelia de Lange syndrome 3, MIM#610759
Review for gene: SMC3 was set to RED
Added comment: 1 individual with mono-allelic LOF (frameshift deletion) reported in large-scale exome sequencing study (PMID: 38693247).
Sources: Literature