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PEX7

peroxisomal biogenesis factor 7

HCNC Approved Symbol
PEX7 (HGNC:8860)
Genomic Coordinates
6:136,822,592 - 136,913,934 (6q23.3)
Synonyms
PTS2R, RD
Disease Associations
This gene is associated with the following 2 diseases in OMIM.

Diagnosed Cases

3Patients

In total, 3 patients were diagnosed with a variant in the PEX7 gene.

Frequently observed phenotypes

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

Atrial septal defect
 2 (66.7%)
Congenital heart defect
 2 (66.7%)
Dysmorphic features
 2 (66.7%)
Patent ductus arteriosus
 2 (66.7%)
Recurrent
 2 (66.7%)
PEX7 - Gene browser | 3billion