Severe microcephalyGene: MSMO1
Comment on list classification: Promotion of this gene from red to green on this panel is appropriate, based on the review in the Undiagnosed metabolic disorders panel, including additional publication (pmid 24144731). Variants reported in at least 3 unrelated cases, all with microcephaly
21 Mar 2017, 12:34 p.m.
Comment on list classification: Only 2 reported cases, and unclear if microcephaly was from birth or acquired and how severe. Not a confirmed DD gene (Gene2Phenotype). Therefore kept rating as red.
19 Jan 2017, 9:29 a.m.
This gene has been classified as Green List (High Evidence).
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).
Publications for MSMO1 were set to 21285510: In a 15 year old girl with MCCPD (OMIM:616834), He et al., identified compound heterozygosity for 2 mutations in MSMO1 (c.519T-A, H173Q and c.731A-G, Y244C). In a 5-year-old Hispanic girl with MCCPD (OMIM:616834), He et al., identified homozygosity for a c.343G-A transition (G115R). Her parents were heterozygous for the mutation.
MSMO1 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Other
MSMO1 was created by rfoulger