Imprinting disorders
Gene: OOEPEnsemblGeneIds (GRCh38): ENSG00000203907
EnsemblGeneIds (GRCh37): ENSG00000203907
OMIM: 611689, Gene2Phenotype
OOEP is in 2 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Single family.Created: 15 Oct 2021, 8:59 a.m. | Last Modified: 15 Oct 2021, 8:59 a.m.
Panel Version: 0.18
Anna Le Fevre (Victorian Clinical Genetics Services)
Proposed classification: Amber, pending further evidence.
Single report of biallelic variants in this gene in a mother of a child with Multi locus imprinting disturbance (MLID) and a transient neonatal diabetes mellitus phenotype.
This gene encodes part of the subcortical maternal complex (SCMC). Other genes in this group act as 'maternal effect' genes and are associated with early embryonic arrest, recurrent hydatiform mole and MLID in offspring.
As is the case for other genes encoding components of the SCMC, the pathogenicity of variants can be difficult to establish as reproductive outcomes are not recorded in genomic databases and variants may be listed in population databases as they are not classed as pathogenic in males or women with no reproductive history.
Functional studies of genes encoding components of the SCMC are limited as their expression is restricted to the oocyte and early embryo.
Sources: LiteratureCreated: 15 Oct 2021, 2:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Multi locus imprinting disturbance in offspring
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- Multi locus imprinting disturbance in offspring
- OMIM
- 611689
- Clinvar variants
- Variants in OOEP
- Penetrance
- unknown
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ooep has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ooep has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Anna Le Fevre (Victorian Clinical Genetics Services)gene: OOEP was added gene: OOEP was added to Imprinting disorders. Sources: Literature Mode of inheritance for gene: OOEP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OOEP were set to 29574422 Phenotypes for gene: OOEP were set to Multi locus imprinting disturbance in offspring Penetrance for gene: OOEP were set to unknown Review for gene: OOEP was set to AMBER