EXOSC5 - Gene browser

EXOSC5

exosome component 5

HCNC Approved Symbol: EXOSC5 (HGNC:24662)
Genomic Coordinates: 19:41,386,374 - 41,397,359 (19q13.2)
Synonyms: hRrp46p, Rrp46p, RRP46, RRP41B, MGC12901, p12B
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

2Patients

In total, 2 patients were diagnosed with a variant in the EXOSC5 gene.

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

02
Patient count

Cerebellar abnormalities: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)
Corpus callosum hypoplasia: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)
Cranial asymmetry: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)
Heterotopias/abnormal migration: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)
Hypotonia: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)