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Intellectual disability

Gene: AGMO

No list

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

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Three unrelated families and functional data.
Sources: Expert list
Created: 27 Jan 2020, 5:48 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
microcephaly; intellectual disability; epilepsy

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • microcephaly
  • intellectual disability
  • epilepsy
OMIM
613738
Clinvar variants
Variants in AGMO
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Jan 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

gene: AGMO was added gene: AGMO was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: AGMO was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AGMO were set to 31555905 Phenotypes for gene: AGMO were set to microcephaly; intellectual disability; epilepsy Review for gene: AGMO was set to GREEN gene: AGMO was marked as current diagnostic