Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Cerebral Palsy v1.247 | NSD2 | Zornitza Stark Marked gene: NSD2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cerebral Palsy v1.247 | NSD2 | Zornitza Stark Gene: nsd2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cerebral Palsy v1.247 | NSD2 | Zornitza Stark Classified gene: NSD2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cerebral Palsy v1.247 | NSD2 | Zornitza Stark Gene: nsd2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cerebral Palsy v1.194 | NSD2 |
Clare van Eyk gene: NSD2 was added gene: NSD2 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: NSD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NSD2 were set to PMID: 38693247 Phenotypes for gene: NSD2 were set to Rauch-Steindl syndrome, MIM#619695 Review for gene: NSD2 was set to RED Added comment: 1 individual with mono-allelic LOF variant (frameshift) reported in large-scale exome sequencing study (PMID: 38693247). Sources: Literature |