MKS1 - Gene browser

MKS1

MKS transition zone complex subunit 1

HCNC Approved Symbol: MKS1 (HGNC:7121)
Genomic Coordinates: 17:58,205,441 - 58,219,255 (17q22)
Synonyms: FLJ20345, POC12, BBS13, MKS
Disease Associations: This gene is associated with the following 3 diseases in OMIM.

3Patients

In total, 3 patients were diagnosed with a variant in the MKS1 gene.

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

03
Patient count

Bilateral ptosis: 2 (66.7%)
Patient Count: 2 (66.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (66.7%)
Central hypotonia: 2 (66.7%)
Patient Count: 2 (66.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (66.7%)
Cerebellar vermis hypoplasia: 2 (66.7%)
Patient Count: 2 (66.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (66.7%)
Dandy-walker malformation: 2 (66.7%)
Patient Count: 2 (66.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (66.7%)
Low-set ears: 2 (66.7%)
Patient Count: 2 (66.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (66.7%)