Microcephaly
Gene: AGMOEnsemblGeneIds (GRCh38): ENSG00000187546
EnsemblGeneIds (GRCh37): ENSG00000187546
OMIM: 613738, Gene2Phenotype
AGMO is in 5 panels
1 review
Sue White (Victorian Clinical Genetics Services)
biallelic LOF and missense variants reported
Sources: LiteratureCreated: 10 Jan 2020, 5:37 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
microcephaly; intellectual disability; epilepsy
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Neurodevelopmental disorder, MONDO:0700092, AGMO-related
- OMIM
- 613738
- Clinvar variants
- Variants in AGMO
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: AGMO were changed from microcephaly; intellectual disability; epilepsy to Neurodevelopmental disorder, MONDO:0700092, AGMO-related
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: AGMO were set to 31555905
Entity classified by Genomics England curator
Sue White (Victorian Clinical Genetics Services)Gene: agmo has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Sue White (Victorian Clinical Genetics Services)Gene: agmo has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Sue White (Victorian Clinical Genetics Services)Gene: agmo has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Sue White (Victorian Clinical Genetics Services)gene: AGMO was added gene: AGMO was added to Microcephaly_VCGS. Sources: Literature 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 Penetrance for gene: AGMO were set to Complete Review for gene: AGMO was set to GREEN