Severe microcephaly

Gene: AGMO

Red List (low evidence)

AGMO (alkylglycerol monooxygenase)
EnsemblGeneIds (GRCh38): ENSG00000187546
EnsemblGeneIds (GRCh37): ENSG00000187546
OMIM: 613738, Gene2Phenotype
AGMO is in 2 panels

1 review

Rebecca Foulger (Genomics England curator)

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.
27 Feb 2017, 11:43 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • Autosomal recessive primary microcephaly (MCPH)
  • primary microcephaly, developmental delay, short stature and intellectual disability
OMIM
613738
Clinvar variants
Variants in AGMO
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

2 Mar 2017, Gel status: 0

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

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.

13 Dec 2016, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

AGMO was created by rfoulger

13 Dec 2016, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

AGMO was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Literature