POMP - Gene browser

POMP

proteasome maturation protein

HCNC Approved Symbol: POMP (HGNC:20330)
Genomic Coordinates: 13:28,659,130 - 28,678,959 (13q12.3)
Synonyms: HSPC014, UMP1, C13orf12
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

Diagnosed Cases

1Patient

In total, 1 patient was diagnosed with a variant in the POMP gene.

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

01
Patient count

Autoimmune thrombocytopenia: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Broad nasal bridge: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Cerebral calcification: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Congenital thrombocytopenia: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Epilepsy, focal: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)