ACTIONABILITY KNOWLEDGE REPOSITORY ACTIONABILITY CURATION INTERFACE
Update History
Condition: Fanconi Anemia
Gene/Gene Panel: FANCA, FANCC, BRCA2, FANCG, BRIP1, PALB2
Context: Pediatric
Date
Status
Release
Outcomes-Interventions
Notes
2022/02/09
Released
1.0.3
P
Morbidity due to FA-related solid tumors (GroupA)
Evaluation by provider with experience in FA to detect solid tumors and initiate treatment (GroupA) 8CC
Morbidity due to bone marrow failure (GroupA)
Evaluation by hematologist with blood counts and bone marrow aspirate to monitor bone marrow failure to initiate further treatment (GroupA) 9CB
Internal system migration associated with MONDO name addition.
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
FANCA ⇔ 0011584 FANCONI ANEMIA, COMPLEMENTATION GROUP A; FANCA
Moderate Actionability
Moderate Actionability
BRCA2 ⇔ 0009215 FANCONI ANEMIA, COMPLEMENTATION GROUP D1; FANCD1
Moderate Actionability
Moderate Actionability
FANCG ⇔ 0009213 FANCONI ANEMIA, COMPLEMENTATION GROUP G; FANCG
Moderate Actionability
Moderate Actionability
BRIP1 ⇔ 0013565 FANCONI ANEMIA, COMPLEMENTATION GROUP J; FANCJ
Moderate Actionability
Moderate Actionability
FANCC ⇔ 0009213 FANCC GENE; FANCC
Moderate Actionability
Moderate Actionability
PALB2 ⇔ 0012565 FANCONI ANEMIA, COMPLEMENTATION GROUP N; FANCN
Moderate Actionability
Moderate Actionability
2022/02/09
Released (Under revision)
1.0.2
P
Morbidity due to FA-related solid tumors (GroupA)
Evaluation by provider with experience in FA to detect solid tumors and initiate treatment (GroupA) 8CC
Morbidity due to bone marrow failure (GroupA)
Evaluation by hematologist with blood counts and bone marrow aspirate to monitor bone marrow failure to initiate further treatment (GroupA) 9CB
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
FANCA ⇔ 0011584 FANCONI ANEMIA, COMPLEMENTATION GROUP A; FANCA
Moderate Actionability
Moderate Actionability
BRCA2 ⇔ 0009215 FANCONI ANEMIA, COMPLEMENTATION GROUP D1; FANCD1
Moderate Actionability
Moderate Actionability
FANCG ⇔ 0009213 FANCONI ANEMIA, COMPLEMENTATION GROUP G; FANCG
Moderate Actionability
Moderate Actionability
BRIP1 ⇔ 0013565 FANCONI ANEMIA, COMPLEMENTATION GROUP J; FANCJ
Moderate Actionability
Moderate Actionability
FANCC ⇔ 0009213 FANCC GENE; FANCC
Moderate Actionability
Moderate Actionability
PALB2 ⇔ 0012565 FANCONI ANEMIA, COMPLEMENTATION GROUP N; FANCN
Moderate Actionability
Moderate Actionability
2021/03/29
Released
1.0.2
P
Morbidity due to FA-related solid tumors (GroupA)
Evaluation by provider with experience in FA to detect solid tumors and initiate treatment (GroupA) 8CC
Morbidity due to bone marrow failure (GroupA)
Evaluation by hematologist with blood counts and bone marrow aspirate to monitor bone marrow failure to initiate further treatment (GroupA) 9CB
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
FANCA ⇔ 0011584 FANCONI ANEMIA, COMPLEMENTATION GROUP A; FANCA
Moderate Actionability
Moderate Actionability
BRCA2 ⇔ 0009215 FANCONI ANEMIA, COMPLEMENTATION GROUP D1; FANCD1
Moderate Actionability
Moderate Actionability
FANCG ⇔ 0009213 FANCONI ANEMIA, COMPLEMENTATION GROUP G; FANCG
Moderate Actionability
Moderate Actionability
BRIP1 ⇔ 0013565 FANCONI ANEMIA, COMPLEMENTATION GROUP J; FANCJ
Moderate Actionability
Moderate Actionability
FANCC ⇔ 0009213 FANCC GENE; FANCC
Moderate Actionability
Moderate Actionability
PALB2 ⇔ 0012565 FANCONI ANEMIA, COMPLEMENTATION GROUP N; FANCN
Moderate Actionability
Moderate Actionability
2020/12/21
Released (Under revision)
1.0.1
P
Morbidity due to FA-related solid tumors (GroupA)
Evaluation by provider with experience in FA to detect solid tumors and initiate treatment (GroupA) 8CC
Morbidity due to bone marrow failure (GroupA)
Evaluation by hematologist with blood counts and bone marrow aspirate to monitor bone marrow failure to initiate further treatment (GroupA) 9CB
Corrected OMIM IDs.
2020/05/01
Released
1.0.1
P
Morbidity due to FA-related solid tumors (GroupA)
Evaluation by provider with experience in FA to detect solid tumors and initiate treatment (GroupA) 8CC
Morbidity due to bone marrow failure (GroupA)
Evaluation by hematologist with blood counts and bone marrow aspirate to monitor bone marrow failure to initiate further treatment (GroupA) 9CB
Corrected OMIM IDs.
2020/05/01
Released (Under revision)
1.0.0
P
Morbidity due to FA-related solid tumors (GroupA)
Evaluation by provider with experience in FA to detect solid tumors and initiate treatment (GroupA) 8CC
Morbidity due to bone marrow failure (GroupA)
Evaluation by hematologist with blood counts and bone marrow aspirate to monitor bone marrow failure to initiate further treatment (GroupA) 9CB
2020/04/01
Released
1.0.0
P
Morbidity due to FA-related solid tumors (GroupA)
Evaluation by provider with experience in FA to detect solid tumors and initiate treatment (GroupA) 8CC
Morbidity due to bone marrow failure (GroupA)
Evaluation by hematologist with blood counts and bone marrow aspirate to monitor bone marrow failure to initiate further treatment (GroupA) 9CB
2020/03/05
In Preparation
N/A
We have begun assessment of the Pediatric context for this topic
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