Severe microcephalyGene: NIN
Comment when marking as ready: Only 1 allele in 1 family (2 sisters). Not a DD-confirmed gene for Seckel syndrome. Submitted of the original expert list (Andrew Jackson) confirmed that there's not enough evidence for NIN to be on the panel.
Created: 3 Jan 2017, 1:49 p.m.
Andrew Jackson confirmed that he regards NIN as a candidate gene rather than a clinically confirmed cause of microcephalic dwarfism. Only one confirmed allele: in 2 sisters with severe short stature, microcephaly, and developmental delay (SCKL7; OMIM:614851), Dauber et al. (PMID:22933543, 2012) identified compound heterozygosity for a 3667G-A transition in exon 18 of the NIN gene, resulting in a gln1222-to-arg (Q1222R) substitution, and a 5128A-G transition in exon 23, resulting in an asn1709-to-ser (N1709S) substitution. The unaffected parents were each heterozygous for 1 of the mutations.
Created: 3 Jan 2017, 10:57 a.m.
2nd March 2017: Panel review was assessed and panel was revised according to expert review and additional curation. This panel began with an expert gene list from Professor Andrew Jackson (University of Edinburgh) for primary microcephaly (MCPH) and microcephalic primordial dwarfism (MPD). Other disorders are included where microcephaly is a primary feature. Disorders where microcephaly is not the primary presenting feature are not included (e.g. congenital disorders of glycosylation, Proud syndrome, Norrie disease). The panel does not include disorders with a cortical malformation (e.g. lissencephaly) since the Malformations of cortical development' panel would be applied to these patients.
This gene has been classified as Red List (Low Evidence).
NIN was created by rfoulger
NIN was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Other