ERCC4 - Gene browser

ERCC4

ERCC excision repair 4, endonuclease catalytic subunit

HCNC Approved Symbol: ERCC4 (HGNC:3436)
Genomic Coordinates: 16:13,920,154 - 13,952,348 (16p13.12)
Synonyms: RAD1, FANCQ, XPF
Disease Associations: This gene is associated with the following 4 diseases in OMIM.

Diagnosed Cases

2Patients

In total, 2 patients were diagnosed with a variant in the ERCC4 gene.

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

02
Patient count

Cerebellar atrophy: 2 (100.0%)
Patient Count: 2 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (100.0%)
Diffuse cerebral atrophy: 2 (100.0%)
Patient Count: 2 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (100.0%)
Progressive cerebellar ataxia: 2 (100.0%)
Patient Count: 2 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (100.0%)
Schizophrenia: 2 (100.0%)
Patient Count: 2 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (100.0%)