PEX1 - Gene browser

PEX1

peroxisomal biogenesis factor 1

HCNC Approved Symbol: PEX1 (HGNC:8850)
Genomic Coordinates: 7:92,487,025 - 92,528,520 (7q21.2)
Synonyms: ZWS1, ZWS
Disease Associations: This gene is associated with the following 3 diseases in OMIM.

Diagnosed Cases

4Patients

In total, 4 patients were diagnosed with a variant in the PEX1 gene.

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

04
Patient count

Abnormalities of the retinal pigment epithelium: 2 (50.0%)
Patient Count: 2 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (50.0%)
Decreased visual acuity, progressive: 2 (50.0%)
Patient Count: 2 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (50.0%)
Dental abnormality: 2 (50.0%)
Patient Count: 2 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (50.0%)
Intellectual disability, mild: 2 (50.0%)
Patient Count: 2 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (50.0%)
Sensorineural hearing impairment: 2 (50.0%)
Patient Count: 2 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (50.0%)