ERCC2 - Gene browser

ERCC2

ERCC excision repair 2, TFIIH core complex helicase subunit

HCNC Approved Symbol: ERCC2 (HGNC:3434)
Genomic Coordinates: 19:45,349,837 - 45,370,573 (19q13.32)
Synonyms: MAG, EM9, MGC102762, MGC126218, MGC126219, XPD
Disease Associations: This gene is associated with the following 3 diseases in OMIM.

Diagnosed Cases

7Patients

In total, 7 patients were diagnosed with a variant in the ERCC2 gene.

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

07
Patient count

Delayed speech and language development: 3 (42.9%)
Patient Count: 3 (42.9%)
% of total patients presenting each phenotype is shown in parentheses.
3 (42.9%)
Facial hypotonia: 3 (42.9%)
Patient Count: 3 (42.9%)
% of total patients presenting each phenotype is shown in parentheses.
3 (42.9%)
Hyperactivity: 3 (42.9%)
Patient Count: 3 (42.9%)
% of total patients presenting each phenotype is shown in parentheses.
3 (42.9%)
Cutis laxa: 2 (28.6%)
Patient Count: 2 (28.6%)
% of total patients presenting each phenotype is shown in parentheses.
2 (28.6%)
Global developmental delay: 2 (28.6%)
Patient Count: 2 (28.6%)
% of total patients presenting each phenotype is shown in parentheses.
2 (28.6%)