PEX6 - Gene browser

PEX6

peroxisomal biogenesis factor 6

HCNC Approved Symbol: PEX6 (HGNC:8859)
Genomic Coordinates: 6:42,963,865 - 42,979,181 (6p21.1)
Synonyms: PXAAA1, PAF-2
Disease Associations: This gene is associated with the following 3 diseases in OMIM.

Diagnosed Cases

7Patients

In total, 7 patients were diagnosed with a variant in the PEX6 gene.

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

07
Patient count

Low set ears: 4 (57.1%)
Patient Count: 4 (57.1%)
% of total patients presenting each phenotype is shown in parentheses.
4 (57.1%)
Gait ataxia: 2 (28.6%)
Patient Count: 2 (28.6%)
% of total patients presenting each phenotype is shown in parentheses.
2 (28.6%)
Retinopathy: 2 (28.6%)
Patient Count: 2 (28.6%)
% of total patients presenting each phenotype is shown in parentheses.
2 (28.6%)
Sensorineural hearing impairment: 2 (28.6%)
Patient Count: 2 (28.6%)
% of total patients presenting each phenotype is shown in parentheses.
2 (28.6%)
Cataracts: 2 (28.6%)
Patient Count: 2 (28.6%)
% of total patients presenting each phenotype is shown in parentheses.
2 (28.6%)