Update History
Condition: Ehlers-Danlos syndrome, classic type
Gene/Gene Panel: COL5A1, COL5A2
Context: Adult
2025/06/18
Released
2.0.0
Ehlers-Danlos syndrome, classic type-related morbidity
(GroupA)
Referral to specialists for symptom management and anticipatory guidance
(GroupA)
9ND
Scoring pairs updated with major updates in the report.
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
COL5A1
⇔
0007522 EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1; EDSCL1
Moderate Actionability
Moderate Actionability
COL5A2
⇔
0007522 EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2; EDSCL2
Moderate Actionability
Moderate Actionability
2022/03/30
Released
(Under revision)
1.1.2
Musculoskeletal morbidity
(GroupA)
Physical/occupational therapy program
(GroupA)
8ND
Perinatal complications
(GroupA)
High-risk pregnancy management
(GroupA)
5DC
Internal system migration associated with MONDO name addition.
2022/02/09
Released
1.1.2
Musculoskeletal morbidity
(GroupA)
Physical/occupational therapy program
(GroupA)
8ND
Perinatal complications
(GroupA)
High-risk pregnancy management
(GroupA)
5DC
Internal system migration associated with MONDO name addition.
2022/02/09
Released
(Under revision)
1.1.1
Musculoskeletal morbidity
(GroupA)
Physical/occupational therapy program
(GroupA)
8ND
Perinatal complications
(GroupA)
High-risk pregnancy management
(GroupA)
5DC
2020/04/20
Released
1.1.1
Musculoskeletal morbidity
(GroupA)
Physical/occupational therapy program
(GroupA)
8ND
Perinatal complications
(GroupA)
High-risk pregnancy management
(GroupA)
5DC
2019/10/03
Released
(Under revision)
1.1.0
Musculoskeletal morbidity
Physical/occupational therapy program
8ND
Perinatal complications
High-risk pregnancy management
5DC
Internal system migration related to merging adult and pediatric contexts.
2019/04/04
Released
1.1.0
Musculoskeletal morbidity
Physical/occupational therapy program
8ND
Perinatal complications
High-risk pregnancy management
5DC
Internal system migration related to merging adult and pediatric contexts.
2018/11/01
Released
1.0.3
Musculoskeletal morbidity
Physical/occupational therapy program
8ND
Perinatal complications
High-risk pregnancy management
5DC
Internal system migration related to score text replacement from E to N
2018/01/11
Released
1.0.2
Musculoskeletal morbidity
Physical/occupational therapy program
8ED
Perinatal complications
High-risk pregnancy management
5DC
2018/01/11
Released
1.0.1
Musculoskeletal morbidity
Physical/occupational therapy program
8ED
Perinatal complications
High-risk pregnancy management
5DC
2017/09/08
Released
1.0.0
Musculoskeletal morbidity
Physical/occupational therapy program
8ED
Perinatal complications
High-risk pregnancy management
5DC