Activity

Filter

Cancel
Date Panel Item Activity
5 actions
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