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Genomic imprinting

Gene: PEG3

Amber List (moderate evidence)
PEG3 (paternally expressed 3)
EnsemblGeneIds (GRCh38): ENSG00000198300
EnsemblGeneIds (GRCh37): ENSG00000198300
OMIM: 601483, Gene2Phenotype
PEG3 is in 0 panels

1 review

Sarah Leigh (Genomics England Curator)

I don't know

Not associated with a phenotype in OMIM, Gen2Phen or MONDO. Although PEG3 has been invested in mice (PMID:32169557;31639176;29734399), to date there seems to be only on report of uniparental disomy of chromosome 19 including PEG3 (PMID: 30007940).
Created: 21 Jan 2022, 9:18 a.m. | Last Modified: 21 Jan 2022, 9:18 a.m.
Panel Version: 0.131

Phenotypes
dysmorphic features; developmental delay

Publications

Created: 21 Jan 2022, 9:18 a.m.
Last Modified: 21 Jan 2022, 9:18 a.m.
Panel version: 0.131

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • dysmorphic features
  • developmental delay
OMIM
601483
Clinvar variants
Variants in PEG3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Jan 2022, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: peg3 has been classified as Amber List (Moderate Evidence).

21 Jan 2022, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: PEG3 were changed from to dysmorphic features; developmental delay

21 Jan 2022, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: PEG3 were set to 30794780; http://igc.otago.ac.nz/home.html

22 Dec 2020, Gel status: 1

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

Sarah Leigh (Genomics England Curator)

gene: PEG3 was added gene: PEG3 was added to Imprinted Genes. Sources: Literature Mode of inheritance for gene: PEG3 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) Publications for gene: PEG3 were set to 30794780; http://igc.otago.ac.nz/home.html