ERCC6 - Gene browser

ERCC6

ERCC excision repair 6, chromatin remodeling factor

HCNC Approved Symbol: ERCC6 (HGNC:3438)
Genomic Coordinates: 10:49,434,881 - 49,539,538 (10q11.23)
Synonyms: CSB, RAD26, ARMD5, CKN2
Disease Associations: This gene is associated with the following 7 diseases in OMIM.

Diagnosed Cases

13Patients

In total, 13 patients were diagnosed with a variant in the ERCC6 gene.

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

013
Patient count

Global developmental delay: 4 (30.8%)
Patient Count: 4 (30.8%)
% of total patients presenting each phenotype is shown in parentheses.
4 (30.8%)
Neurodevelopmental regression: 4 (30.8%)
Patient Count: 4 (30.8%)
% of total patients presenting each phenotype is shown in parentheses.
4 (30.8%)
Ataxia: 4 (30.8%)
Patient Count: 4 (30.8%)
% of total patients presenting each phenotype is shown in parentheses.
4 (30.8%)
Microcephaly: 2 (15.4%)
Patient Count: 2 (15.4%)
% of total patients presenting each phenotype is shown in parentheses.
2 (15.4%)
Abnormality of the basal ganglia: 2 (15.4%)
Patient Count: 2 (15.4%)
% of total patients presenting each phenotype is shown in parentheses.
2 (15.4%)