COL1A2 |
- 0
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- COL1A2 (HGNC:2198) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- collagen type I alpha 2 chain
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- OI4
- Alias symbols
- No aliases found
- %HI
- 4.09(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 1(Read more about gnomAD pLI score)
- LOEUF
- 0.2(Read more about gnomAD LOEUF score)
- Cytoband
- 7q21.3
- Genomic Coordinates
-
GRCh37/hg19: chr7:94024207-94060539 NCBI Ensembl UCSC GRCh38/hg38: chr7:94394895-94431227 NCBI Ensembl UCSC - MANE Select Transcript
- NM_000089.4 ENST00000297268.11 (Read more about MANE Select)
- Function
- Type I collagen is a member of group I collagen (fibrillar forming collagen). (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-22424
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency
(0)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
10/12/2012
Haploinsufficiency (HI) Score Details
HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency
(Disclaimer)
HI Evidence Comments:
Heterozygous COL1A2 mutations are associated with osteogenesis imperfecta types II-IV (MIM# 166210, 259420, 166220) and Ehlers-Danlos syndrome, type VIIB (MIM #130060). The vast majority of reported COL1A2 mutations, including intragenic copy number changes, result in a structurally abnormal protein product and pathogenesis by a dominant-negative, rather than a dosage sensitivity-type, mechanism (see PMID 17078022 and OMIM for reviews). Any identified copy number changes within this gene will need specific scrutiny to determine potential pathogenesis.
Homozygous and compound heterozygous null COL1A2 mutations are associated with the autosomal recessive condition, Ehlers-Danlos syndrome, cardiac valvular form (MIM #225320). When reported, carrier parents had no evidence of valvular heart disease.
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)