CSPP1 - Gene browser

CSPP1

centrosome and spindle pole associated protein 1

HCNC Approved Symbol: CSPP1 (HGNC:26193)
Genomic Coordinates: 8:67,064,368 - 67,196,614 (8q13.1-q13.2)
Synonyms: FLJ22490, CSPP, JBTS21, CSPP-L
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

5Patients

In total, 5 patients were diagnosed with a variant in the CSPP1 gene.

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

05
Patient count

Cleft lip: 2 (40.0%)
Patient Count: 2 (40.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (40.0%)
Cleft palate: 2 (40.0%)
Patient Count: 2 (40.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (40.0%)
Hydrocephalus: 2 (40.0%)
Patient Count: 2 (40.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (40.0%)
Recurrent chest infections: 1 (20.0%)
Patient Count: 1 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (20.0%)
Runny nose: 1 (20.0%)
Patient Count: 1 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (20.0%)