• 3
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
MNX1 (HGNC:4979) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
motor neuron and pancreas homeobox 1
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
HLXB9
Alias symbols
HB9, HOXHB9, SCRA1
%HI
0.84(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.79(Read more about gnomAD pLI score)
LOEUF
0.5(Read more about gnomAD LOEUF score)
Cytoband
7q36.3
Genomic Coordinates
GRCh37/hg19: chr7:156797548-156803357 NCBI Ensembl UCSC
GRCh38/hg38: chr7:157004854-157010663 NCBI Ensembl UCSC
MANE Select Transcript
NM_005515.4 ENST00000252971.11 (Read more about MANE Select)
Function
Transcription factor (By similarity). Recognizes and binds to the regulatory elements of target genes, such as visual system homeobox CHX10, negatively modulating transcription (By similarity). Plays a role in establishing motor neuron identity, in concert with LIM domain transcription factor LMO4 (By similarity). Involved in negatively modulating transcription of interneuron genes in motor neurons, acting, at least in part, by blocking regulatory sequence interactions of the ISL1-LHX3 complex (... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-21762
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Sufficient Evidence for Haploinsufficiency (3)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
10/04/2012

Haploinsufficiency (HI) Score Details

HI Score:
3
HI Evidence Strength:
Sufficient Evidence for Haploinsufficiency (Disclaimer)
HI Disease:
HI Evidence:
  • PUBMED: 18449898
    Cretolle et al. (2008) provide an update and review of MNX1 (formerly HLXB9) mutations in Currarino syndrome (CS). At the time, 66 different heterozygous cytogenetic or molecular anomalies at the MNX1 locus had been identified, including 7 nonsense mutations, two of which were novel to this particular report.
  • PUBMED: 10749657
    Hagan et al. (2000) report of MNX1 mutations in 22 patients with CS, including two probands with nonsense mutations and eight with frame shift mutations. Three probands were found to have hemizygous 7q36 microdeletions encompassing MNX1, analyzed by microsatellite typing; the actual sizes of these deletions were not determined.
HI Evidence Comments:
While focal deletions of MNX1 have not been reported, the association of truncating sequence-level MNX1 mutations with CS phenotypes comparable to those of patients with MNX1 microdeletions provides strong evidence that this disease results from haploinsufficiency.

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)