SPRED1 - Gene browser

SPRED1

sprouty related EVH1 domain containing 1

HCNC Approved Symbol: SPRED1 (HGNC:20249)
Genomic Coordinates: 15:38,252,836 - 38,357,249 (15q14)
Synonyms: FLJ33903, PPP1R147, SPRED-1
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

9Patients

In total, 9 patients were diagnosed with a variant in the SPRED1 gene.

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

09
Patient count

Cafe-au-lait spot: 5 (55.6%)
Patient Count: 5 (55.6%)
% of total patients presenting each phenotype is shown in parentheses.
5 (55.6%)
Relative macrocephaly: 3 (33.3%)
Patient Count: 3 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
3 (33.3%)
Multiple cafe-au-lait spots: 2 (22.2%)
Patient Count: 2 (22.2%)
% of total patients presenting each phenotype is shown in parentheses.
2 (22.2%)
Axillary freckling: 2 (22.2%)
Patient Count: 2 (22.2%)
% of total patients presenting each phenotype is shown in parentheses.
2 (22.2%)
Growth delay: 1 (11.1%)
Patient Count: 1 (11.1%)
% of total patients presenting each phenotype is shown in parentheses.
1 (11.1%)