EVX2 |
- 0
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- EVX2 (HGNC:3507) HGNC Entrez Ensembl OMIM UCSC GeneReviews LOVD LSDB ClinVar
- HGNC Name
- even-skipped homeobox 2
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- No aliases found
- %HI
- 19.69(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 1.23(Read more about gnomAD LOEUF score)
- Cytoband
- 2q31.1
- Genomic Coordinates
-
GRCh37/hg19: chr2:176944835-176948690 NCBI Ensembl UCSC GRCh38/hg38: chr2:176077472-176083962 NCBI Ensembl UCSC - MANE Select Transcript
- NM_001080458.2 ENST00000308618.5 (Read more about MANE Select)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-15866
ClinGen Curation ID:
CCID:007093
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:
No disease association with just EVX2, but a 117 kb microdeletion at the 5' end of the HOXD gene cluster, which includes EVX2 and the HOXD9-HOXD13 genes, causes synpolydactyly (SPD), a dominantly inherited disease resulting in limb malformation. For more information, see PMID:11778160.
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000002.11)
(NC_000002.12)