Genomic imprinting
Gene: MEST
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
Gene: mest has been classified as Green List (High Evidence).
Publications for gene: MEST were set to 20082469; 30794780; 11754049; http://igc.otago.ac.nz/home.html
Phenotypes for gene: MEST were changed from to Silver-Russell syndrome 2, OMIM:618905
Publications for gene: MEST were set to 30794780; 11754049; http://igc.otago.ac.nz/home.html
Publications for gene: MEST were set to 30794780; http://igc.otago.ac.nz/home.html
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