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Genomic imprinting

Gene: MEST

Green List (high evidence)
MEST (mesoderm specific transcript)
EnsemblGeneIds (GRCh38): ENSG00000106484
EnsemblGeneIds (GRCh37): ENSG00000106484
OMIM: 601029, Gene2Phenotype
MEST is in 0 panels

1 review

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Not associated with a phenotype in OMIM, Gen2Phen or MONDO. Epigenetic Analysis of 28 Silver-Russell syndrome patients, revealed methylation changes to MEST by bisulfite pyrosequencing in 3 cases (PMID: 33536359).
MEST had previously been associated with Silver-Russell syndrome 2 (SRS2)(OMIM:618905), due to its location within the area subject to maternal uniparental disomy of chromosome 7 observed in SRS2 cases (PMID: 20082469). This association had been refuted possibly due to small sample size or detection methods (PMID: 18585117;11754049).
Created: 21 Jan 2022, 6:49 a.m. | Last Modified: 21 Jan 2022, 6:49 a.m.
Panel Version: 0.119

Publications

Created: 20 Jan 2022, 7:22 p.m.
Last Modified: 20 Jan 2022, 7:22 p.m.
Panel version: 0.119

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Silver-Russell syndrome 2, OMIM:618905
OMIM
601029
Clinvar variants
Variants in MEST
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: mest has been classified as Green List (High Evidence).

21 Jan 2022, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: MEST were set to 20082469; 30794780; 11754049; http://igc.otago.ac.nz/home.html

20 Jan 2022, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: MEST were changed from to Silver-Russell syndrome 2, OMIM:618905

20 Jan 2022, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: MEST were set to 30794780; 11754049; http://igc.otago.ac.nz/home.html

18 Jan 2022, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

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