[NTR/gene] COL1A1-related Ehlers-Danlos syndrome

[RyanFWebb]

Preferred gene-related syndrome label
COL1A1-related Ehlers-Danlos syndrome

Synonyms

Parent term (use OLS, or your favorite ontology browser)
skeletal dysplasia

Definition
Any Ehlers-Danlos syndrome in which the cause of the disease is a variant in the COL1A1 gene. This includes classic and arthrochalasia types as well as combined osteogenesis imperfecta and Ehlers-Danlos syndrome.

**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?
Ehlers-Danlos syndrome, classic type (MONDO:0007522)
Ehlers-Danlos syndrome, arthrochalasis type (MONDO:0007525)
combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 (MONDO:0030854)

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

[nicolevasilevsky]

Hi @RyanFWebb according to OMIM, MONDO:0019567 'Ehlers-Danlos syndrome, classic type, 1' has a variation in COL5A1

[RyanFWebb]

Thank you for catching this! I meant to include 'Ehlers-Danlos syndrome, classic type' (MONDO:0007522) as one of the children instead of type 1.

[nicolevasilevsky]

Hi @RyanFWebb In the ontology, a term that is labeled COL1A1-related EDS and defined as 'Any Ehlers-Danlos syndrome in which the cause of the disease is a variant in the COL1A1 gene', means this is a monogenic disease and only one gene is affected in this disease.

Based on the information for 'Ehlers-Danlos syndrome, classic type' in Orphanet, three genes are implicated in this disease:
https://www.orpha.net/en/disease/gene/list/287?mode=name

[nicolevasilevsky]

@RyanFWebb these terms are inferred to be subclasses of your new term:

[RyanFWebb]

Hi @nicolevasilevsky Thank you, the GCEP aims to classify the gene disease relationship between COL1A1 and COL1A1-related Ehlers-Danlos syndrome which include the lumped entities of Ehlers-Danlos syndrome, classic type, Ehlers-Danlos syndrome, arthrochalasis type, and combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1. What adjustment could be made so that this is possible?