Severe microcephalyGene: AGMO
Two more unrelated families reported.
Created: 30 Aug 2020, 5:30 a.m. | Last Modified: 30 Aug 2020, 5:30 a.m.
Panel Version: 2.19
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
microcephaly; intellectual disability; epilepsy
Variants in this GENE are reported as part of current diagnostic practice
As discussed with the GMS Neurology Specialist Test Group webex call 11thJuly 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red
Created: 29 Jul 2019, 4:18 p.m. | Last Modified: 29 Jul 2019, 4:18 p.m.
Panel Version: 1.62
PMID:27000257 (2016) enrolled a consanguineous family from Saudi Arabia presenting with primary microcephaly, developmental delay, short stature and intellectual disability. They identified a novel homozygous deletion mutation (c.967delA; p.Glu324Lysfs12*) in exon 10 of the alkylglycerol monooxygenase (AGMO) gene. Population screening of 178 ethnically matched control chromosomes and consultation of the Exome Aggregation Consortium database confirmed that this mutation was not present outside the family.
Created: 27 Feb 2017, 11:43 a.m.
Source NHS GMS was added to AGMO.
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.
AGMO was created by rfoulger
AGMO was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Literature