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Macrocephaly_Megalencephaly v0.125 KDM6B Elena Savva Classified gene: KDM6B as Green List (high evidence)
Macrocephaly_Megalencephaly v0.125 KDM6B Elena Savva Gene: kdm6b has been classified as Green List (High Evidence).
Macrocephaly_Megalencephaly v0.124 KDM6B Elena Savva Classified gene: KDM6B as Green List (high evidence)
Macrocephaly_Megalencephaly v0.124 KDM6B Elena Savva Gene: kdm6b has been classified as Green List (High Evidence).
Macrocephaly_Megalencephaly v0.123 KDM6B Elena Savva Marked gene: KDM6B as ready
Macrocephaly_Megalencephaly v0.123 KDM6B Elena Savva Gene: kdm6b has been classified as Red List (Low Evidence).
Macrocephaly_Megalencephaly v0.123 KDM6B Elena Savva gene: KDM6B was added
gene: KDM6B was added to Macrocephaly_Megalencephaly. Sources: Literature
Mode of inheritance for gene: KDM6B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KDM6B were set to PMID: 37196654
Phenotypes for gene: KDM6B were set to Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities MIM#618505
Review for gene: KDM6B was set to GREEN
Added comment: Rots (2023): 17/65 probands were macrocephalic
Sources: Literature