Severe microcephalyGene: DNA2
Comment when marking as ready: Andrew Jackson (the submitter of the original expert list) confirmed that he considers DNA2 as a candidate gene rather than a clinically confirmed gene for Seckel syndrome. There is only 1 reported allele in OMIM for 2 individuals of the same family.
3 Jan 2017, 1:57 p.m.
In an 18-year-old uncle and 9-year-old niece, both born of consanguineous marriages with features consistent with Seckel syndrome (SCKL8; OMIM: 615807), Shaheen et al. (PMID:24389050, 2014) identified homozygosity for a 1-bp deletion (c.3372+6delC) in intron 20 of the DNA2 gene, predicted to cause truncation of 1 transcript and abnormal splicing of another 2 transcripts. This is the only recorded variant in OMIM.
3 Jan 2017, 1:55 p.m.
Confirmed DD gene for PRIMORDIAL DWARFISM SECKEL SYNDROME 8 (OMIM:615807).
3 Jan 2017, 1:53 p.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).
DNA2 was created by rfoulger
DNA2 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Other