Details of Disease

General Information of Disease (ID: DISEU691)

Disease Name Fanconi anemia complementation group L
Synonyms
Fanconi Anemia, complementation Group 50; Fanconi anemia, complementation group L; FANCL Fanconi anaemia; Fanconi anemia caused by mutation in FANCL; FANCL; FANCL Fanconi anemia; Fanconi anaemia complementation group type L; Fanconi Anemia, complementation group type 50; Fanconi anemia complementation group type L; Fanconi anaemia caused by mutation in FANCL; Fanconi anemia complementation group L
Definition Any Fanconi anemia in which the cause of the disease is a mutation in the FANCL gene.
Disease Hierarchy
DISGW6Q8: Fanconi's anemia
DISEU691: Fanconi anemia complementation group L
Disease Identifiers
MONDO ID
MONDO_0013566
UMLS CUI
C3469528
OMIM ID
614083
MedGen ID
854018

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
FANCL OTJC7QPQ Definitive Autosomal recessive [1]
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References

1 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.