ABCA12 - Gene browser

ABCA12

ATP binding cassette subfamily A member 12

HCNC Approved Symbol: ABCA12 (HGNC:14637)
Genomic Coordinates: 2:214,931,542 - 215,138,626 (2q35)
Synonyms: DKFZP434G232, LI2, ICR2B
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

Diagnosed Cases

28Patients

In total, 28 patients were diagnosed with a variant in the ABCA12 gene.

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

028
Patient count

Congenital ichthyosis: 11 (39.3%)
Patient Count: 11 (39.3%)
% of total patients presenting each phenotype is shown in parentheses.
11 (39.3%)
Congenital nonbullous ichthyosiform erythroderma: 7 (25.0%)
Patient Count: 7 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
7 (25.0%)
Congenital ichthyosiform erythroderma: 6 (21.4%)
Patient Count: 6 (21.4%)
% of total patients presenting each phenotype is shown in parentheses.
6 (21.4%)
Ichthyosis: 4 (14.3%)
Patient Count: 4 (14.3%)
% of total patients presenting each phenotype is shown in parentheses.
4 (14.3%)
Diffuse palmoplantar keratoderma: 4 (14.3%)
Patient Count: 4 (14.3%)
% of total patients presenting each phenotype is shown in parentheses.
4 (14.3%)