• 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
PMM2 (HGNC:9115) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
phosphomannomutase 2
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
CDG1
Alias symbols
CDGS, CDG1a, PMI, PMI1
%HI
40.44(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.88(Read more about gnomAD LOEUF score)
Cytoband
16p13.2
Genomic Coordinates
GRCh37/hg19: chr16:8891696-8943182 NCBI Ensembl UCSC
GRCh38/hg38: chr16:8797839-8849325 NCBI Ensembl UCSC
MANE Select Transcript
NM_000303.3 ENST00000268261.9 (Read more about MANE Select)
Function
Involved in the synthesis of the GDP-mannose and dolichol- phosphate-mannose required for a number of critical mannosyl transfer reactions. {ECO:0000250|UniProtKB:Q92871}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-19810
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • PMM2-congenital disorder of glycosylation Monarch

Triplosensitivity (TS) Score Details

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

Genomic View

Select assembly: (NC_000016.9) (NC_000016.10)