FANCL - Gene browser | 3billion

FANCL

FANCL

FA complementation group L

HCNC Approved Symbol: FANCL (HGNC:20748)
Genomic Coordinates: 2:58,159,243 - 58,241,380 (2p16.1)
Synonyms: FLJ10335, FAAP43, Pog, PHF9
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

3Patients

In total, 3 patients were diagnosed with a variant in the FANCL gene.

Frequently observed phenotypes(Top 5 only)

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

03
Patient count

Anemia: 2 (66.7%)
Patient Count: 2 (66.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (66.7%)
Hypoplastic bone marrow: 1 (33.3%)
Patient Count: 1 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (33.3%)
Macrocytic anemia: 1 (33.3%)
Patient Count: 1 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (33.3%)
Pancytopenia: 1 (33.3%)
Patient Count: 1 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (33.3%)

Last updated: 2024-06-30

FANCL - Gene browser | 3billion