[NTR/gene] COL1A2-related osteogenesis imperfecta

[RyanFWebb]

Preferred gene-related syndrome label
COL1A2-related osteogenesis imperfecta

Synonyms

Parent term (use OLS, or your favorite ontology browser)
osteogenesis imperfecta

Definition
Any osteogenesis imperfecta (type I, II, III, and IV) in which the cause of the disease is a variant in the COL1A2 gene.

**Definition source (Please give PubMed ID, if applicable, in format PMID:#######)
On behalf of ClinGen's Skeletal Disorders Gene Curation Expert Panel.

Children terms (if applicable) Should any existing terms be re-classified as children underneath this new proposed term?
osteogenesis imperfecta type 1 (MONDO:0008146)
osteogenesis imperfecta type 2 (MONDO:0008147)
osteogenesis imperfecta type 3 (MONDO:0009804)
osteogenesis imperfecta type 4 (MONDO:0008148)

Your nano-attribution (ORCID) or URL for a working group
ClinGen's Skeletal Disorders Gene Curation Expert Panel

[nicolevasilevsky]

note to self (and @katiermullen) - I think we should create a cross-species analog on this term:
'osteogenesis imperfecta, COL1A2-related, dog'

[nicolevasilevsky]

Children terms (if applicable) Should any existing terms be re-classified as children underneath this new proposed term?
osteogenesis imperfecta type 1 (MONDO:0008146)
osteogenesis imperfecta type 2 (MONDO:0008147)
osteogenesis imperfecta type 3 (MONDO:0009804)
osteogenesis imperfecta type 4 (MONDO:0008148)

@RyanFWebb Thanks for your request.

The types 2-4 can have variations in either COL1A2 or COL1A1, according to OMIM. In the ontology, if we assert these terms as a subclass of COL1A2-related OI, then that will be interpreted as every instance of this term has a variation of COL1A2, which would not be true.

[nicolevasilevsky]

and according to OMIM, OSTEOGENESIS IMPERFECTA, TYPE I; OI1 has a variation in COL1A1

[RyanFWebb]

@nicolevasilevsky Similar to ticket 8759, the goal here is to have two grouping terms. One for COL1A2-related osteogenesis imperfecta and one for COL1A1-related osteogenesis imperfecta.

Both would be applicable to any OI (types 1-4) caused by variation in the specified gene. This is consistent with the Nosology of genetic skeletal disorders: 2023 revision which indicates that these two genes are both associated with all 4 types of OI.