Severe microcephalyGene: NSD2
Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There are >3 unrelated cases associated with this gene; however, the severity of microcephaly in these cases do not satisfy our criteria for severe microcephaly. Therefore, this gene has been given an Amber rating.
Created: 16 Sep 2021, 1:07 p.m. | Last Modified: 16 Sep 2021, 1:07 p.m.
Panel Version: 2.236
Gene: nsd2 has been classified as Amber List (Moderate Evidence).
Publications for gene: NSD2 were set to 30345613; 31171569
Phenotypes for gene: NSD2 were changed from microcephaly; intellectual disability to microcephaly, MONDO:0001149
gene: NSD2 was added gene: NSD2 was added to Severe microcephaly. Sources: Expert list Mode of inheritance for gene: NSD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NSD2 were set to 30345613; 31171569 Phenotypes for gene: NSD2 were set to microcephaly; intellectual disability Review for gene: NSD2 was set to GREEN