• 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
MEST (HGNC:7028) HGNC Entrez Ensembl OMIM UCSC GeneReviews LOVD LSDB ClinVar
HGNC Name
mesoderm specific transcript
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
PEG1
%HI
7.94(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.4(Read more about gnomAD pLI score)
LOEUF
0.47(Read more about gnomAD LOEUF score)
Cytoband
7q32.2
Genomic Coordinates
GRCh37/hg19: chr7:130126016-130146306 NCBI Ensembl UCSC
GRCh38/hg38: chr7:130486175-130506465 NCBI Ensembl UCSC
MANE Select Transcript
NM_002402.4 ENST00000223215.10 (Read more about MANE Select)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-20722
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
04/04/2012

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Evidence Comments:
PMID:22211632 Eggermann et al. (2012) describe a patient with a 3.7 Mb de novo paternally derived deletion involving MEST (and 52 additional genes) with features similar to Silver-Russell syndrome. In ~10% of SRS cases, the patients have upd(7)mat. PMID:15691366 Kim et al. (2005) tested methylation patterns at MEST and GRB10 on chr7 in 15 patients with SRS. They identified one patient with maternal UPD at both loci.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000007.13) (NC_000007.14)