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Severe microcephaly

Gene: AGMO

Amber List (moderate evidence)

AGMO (alkylglycerol monooxygenase)
EnsemblGeneIds (GRCh38): ENSG00000187546
EnsemblGeneIds (GRCh37): ENSG00000187546
OMIM: 613738, Gene2Phenotype
AGMO is in 4 panels

4 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: Upgraded from Red to Amber. With addition of the publication identified by Zornitza Stark, there are now 2/3 unrelated cases with microcephaly (PMIDs: 31555905 and 27000257). Rating Amber awaiting further cases prior to inclusion as diagnostic-grade.
Created: 27 Jan 2021, 10:47 a.m. | Last Modified: 27 Jan 2021, 10:47 a.m.
Panel Version: 2.82
PMID:31555905. Okur et al., report different compound heterozygous variants in AGMO in 2 unrelated individuals (8 year old European girl, and 4-year old Ashkenazi Jewish boy). They demonstrated significantly diminished enzyme activity for all disease-associated variants. The girl harboured variants p.Trp130Ter & p.Gly238Cys. The boy harboured variants p.Gly144Arg and p.Tyr236del. Note that there is one individual in gnomAD who is homozygous for the p.Gly144Arg variant. Only the girl displayed microcephaly (Table 1).
Created: 27 Jan 2021, 10:42 a.m. | Last Modified: 27 Jan 2021, 10:42 a.m.
Panel Version: 2.80

Zornitza Stark (Australian Genomics)

Green List (high evidence)

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

Louise Daugherty (Genomics England Curator)

I don't know

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

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


Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
  • Expert Review Amber
  • Literature
  • Autosomal recessive primary microcephaly (MCPH)
  • primary microcephaly, developmental delay, short stature and intellectual disability
Clinvar variants
Variants in AGMO
Panels with this gene

History Filter Activity

27 Jan 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: agmo has been classified as Amber List (Moderate Evidence).

27 Jan 2021, Gel status: 1

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: AGMO were set to 27000257

29 Jul 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to AGMO.

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


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