MNX1 |
- 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
- 0.85(Read more about gnomAD pLI score)
- LOEUF
- 0.64(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
ClinGen Curation ID:
CCID:007477
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:
- Currarino triad Monarch
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)