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PEX10

Synonyms
NALD, PBD6A, PBD6B, RNF69
External resources
Summary
This gene encodes a protein involved in import of peroxisomal matrix proteins. This protein localizes to the peroxisomal membrane. Mutations in this gene result in phenotypes within the Zellweger spectrum of peroxisomal biogenesis disorders, ranging from neonatal adrenoleukodystrophy to Zellweger syndrome. Alternative splicing results in two transcript variants encoding different isoforms.

Variant counts

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
16
Likely pathogenic
0
VUS
1,187
Likely benign
370
Benign
193

Patient phenotypes

Proportions of phenotypes among 16 patients carring pathogenic or likely pathogenic variants on PEX10 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the ear
25%
Abnormality of the nervous system
25%
Abnormality of the eye
18.8%
Abnormality of limbs
12.5%
Abnormality of the cardiovascular system
12.5%
Abnormality of the immune system
12.5%
Abnormality of the musculoskeletal system
12.5%
Abnormality of blood and blood-forming tissues
6.3%
Abnormality of head or neck
6.3%
Abnormality of the digestive system
6.3%
Abnormality of the genitourinary system
6.3%
Abnormality of the respiratory system
6.3%
Constitutional symptom
6.3%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the integument
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Growth abnormality
0%
Neoplasm
0%

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