TMEM67 - Gene browser

TMEM67

transmembrane protein 67

HCNC Approved Symbol: TMEM67 (HGNC:28396)
Genomic Coordinates: 8:93,754,844 - 93,832,653 (8q22.1)
Synonyms: MGC26979, JBTS6, NPHP11, MKS3
Disease Associations: This gene is associated with the following 6 diseases in OMIM.

18Patients

In total, 18 patients were diagnosed with a variant in the TMEM67 gene.

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

018
Patient count

Hypertelorism: 5 (27.8%)
Patient Count: 5 (27.8%)
% of total patients presenting each phenotype is shown in parentheses.
5 (27.8%)
Intellectual disability: 5 (27.8%)
Patient Count: 5 (27.8%)
% of total patients presenting each phenotype is shown in parentheses.
5 (27.8%)
Polycystic kidney dysplasia: 4 (22.2%)
Patient Count: 4 (22.2%)
% of total patients presenting each phenotype is shown in parentheses.
4 (22.2%)
Nystagmus: 4 (22.2%)
Patient Count: 4 (22.2%)
% of total patients presenting each phenotype is shown in parentheses.
4 (22.2%)
Gait disturbance: 2 (11.1%)
Patient Count: 2 (11.1%)
% of total patients presenting each phenotype is shown in parentheses.
2 (11.1%)