PQBP1 - Gene browser

PQBP1

polyglutamine binding protein 1

HCNC Approved Symbol: PQBP1 (HGNC:9330)
Genomic Coordinates: 23:48,897,930 - 48,903,143 (Xp11.23)
Synonyms: RENS1, MRXS8, SHS, MRX55, MRX2, MRXS3
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

6Patients

In total, 6 patients were diagnosed with a variant in the PQBP1 gene.

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

06
Patient count

Microcephaly: 3 (50.0%)
Patient Count: 3 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (50.0%)
Ankle contracture: 1 (16.7%)
Patient Count: 1 (16.7%)
% of total patients presenting each phenotype is shown in parentheses.
1 (16.7%)
Clinodactyly: 1 (16.7%)
Patient Count: 1 (16.7%)
% of total patients presenting each phenotype is shown in parentheses.
1 (16.7%)
Congenital microcephaly: 1 (16.7%)
Patient Count: 1 (16.7%)
% of total patients presenting each phenotype is shown in parentheses.
1 (16.7%)
Flat facies: 1 (16.7%)
Patient Count: 1 (16.7%)
% of total patients presenting each phenotype is shown in parentheses.
1 (16.7%)