Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Cerebral Palsy v1.262 | KAT6B | Zornitza Stark Marked gene: KAT6B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cerebral Palsy v1.262 | KAT6B | Zornitza Stark Gene: kat6b has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cerebral Palsy v1.262 | KAT6B | Zornitza Stark Classified gene: KAT6B as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cerebral Palsy v1.262 | KAT6B | Zornitza Stark Gene: kat6b has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cerebral Palsy v1.193 | KAT6B |
Clare van Eyk gene: KAT6B was added gene: KAT6B was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: KAT6B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KAT6B were set to PMID: 38693247 Phenotypes for gene: KAT6B were set to SBBYSS syndrome, MIM#603736; Genitopatellar syndrome, MIM#606170 Review for gene: KAT6B was set to AMBER Added comment: 1 individual with mono-allelic stopgain variant and cerebral palsy reported in large-scale exome sequencing study. Detailed clinical information not provided. Sources: Literature |