CYP27A1 - Gene browser

CYP27A1

cytochrome P450 family 27 subfamily A member 1

HCNC Approved Symbol: CYP27A1 (HGNC:2605)
Genomic Coordinates: 2:218,782,147 - 218,815,293 (2q35)
Synonyms: CTX, CP27, CYP27
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

13Patients

In total, 13 patients were diagnosed with a variant in the CYP27A1 gene.

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

013
Patient count

Hyperbilirubinemia: 3 (23.1%)
Patient Count: 3 (23.1%)
% of total patients presenting each phenotype is shown in parentheses.
3 (23.1%)
Intrahepatic cholestasis: 2 (15.4%)
Patient Count: 2 (15.4%)
% of total patients presenting each phenotype is shown in parentheses.
2 (15.4%)
Jaundice, neonatal: 2 (15.4%)
Patient Count: 2 (15.4%)
% of total patients presenting each phenotype is shown in parentheses.
2 (15.4%)
Central hypotonia: 2 (15.4%)
Patient Count: 2 (15.4%)
% of total patients presenting each phenotype is shown in parentheses.
2 (15.4%)
Microcephaly: 2 (15.4%)
Patient Count: 2 (15.4%)
% of total patients presenting each phenotype is shown in parentheses.
2 (15.4%)