ERCC8 - Gene browser

ERCC8

ERCC excision repair 8, CSA ubiquitin ligase complex subunit

HCNC Approved Symbol: ERCC8 (HGNC:3439)
Genomic Coordinates: 5:60,866,454 - 60,945,070 (5q12.1)
Synonyms: CSA, CKN1
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

3Patients

In total, 3 patients were diagnosed with a variant in the ERCC8 gene.

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

03
Patient count

Microcephaly: 2 (66.7%)
Patient Count: 2 (66.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (66.7%)
Retinitis pigmentosa: 1 (33.3%)
Patient Count: 1 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (33.3%)
Metachromatic leukodystrophy variant: 1 (33.3%)
Patient Count: 1 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (33.3%)
Congenital cataract: 1 (33.3%)
Patient Count: 1 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (33.3%)
Developmental cataract: 1 (33.3%)
Patient Count: 1 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (33.3%)