Severe microcephaly
Gene: NSD2
Comment on list classification: There is enough evidence for this gene to be green on this panel.Created: 5 Dec 2023, 11:44 a.m. | Last Modified: 5 Dec 2023, 11:44 a.m.
Panel Version: 4.44
Microcephaly is well recognized as a feature associated with pathogenic NSD2 variants. PMID: 33941880 reports three NSD2 variants in three unrelated cases of Rauch-Steindl syndrome (OMIM:619695), who have severe microcephaly (Occipitofrontal circumference (OFC) below >3.0 SD). Similarly, PMID: 33276791 reports a case with
OFC of 44 cm (<−3SD). Further cases are examined in the supplementary table 4 in PMID: 33941880Created: 5 Dec 2023, 11:42 a.m. | Last Modified: 5 Dec 2023, 1:48 p.m.
Panel Version: 4.44
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
Microcephaly reported in 6 of 7 individuals with LOF variants in this gene.
Sources: Expert listCreated: 31 Aug 2020, 8:59 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
microcephaly; intellectual disability
Publications
Gene: nsd2 has been classified as Amber List (Moderate Evidence).
Tag Q4_23_promote_green tag was added to gene: NSD2.
Phenotypes for gene: NSD2 were changed from microcephaly, MONDO:0001149 to Rauch-Steindl syndrome, OMIM:619695; Rauch-Steindl syndrome, MONDO:0859219
Publications for gene: NSD2 were set to 30345613; 31171569; 29760529; 29892088
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