NUS1 - Gene browser

NUS1

NUS1 dehydrodolichyl diphosphate synthase subunit

HCNC Approved Symbol: NUS1 (HGNC:21042)
Genomic Coordinates: 6:117,675,469 - 117,710,727 (6q22.1)
Synonyms: MGC7199, NgBR, TANGO14, C6orf68
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

13Patients

In total, 13 patients were diagnosed with a variant in the NUS1 gene.

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

013
Patient count

Global developmental delay: 5 (38.5%)
Patient Count: 5 (38.5%)
% of total patients presenting each phenotype is shown in parentheses.
5 (38.5%)
Ataxia: 5 (38.5%)
Patient Count: 5 (38.5%)
% of total patients presenting each phenotype is shown in parentheses.
5 (38.5%)
Tremor: 3 (23.1%)
Patient Count: 3 (23.1%)
% of total patients presenting each phenotype is shown in parentheses.
3 (23.1%)
Abnormal cerebellum morphology: 2 (15.4%)
Patient Count: 2 (15.4%)
% of total patients presenting each phenotype is shown in parentheses.
2 (15.4%)
Cerebellar anomalies: 2 (15.4%)
Patient Count: 2 (15.4%)
% of total patients presenting each phenotype is shown in parentheses.
2 (15.4%)