MEST |
- 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)