RBL2 - Gene browser | 3billion

RBL2

RBL2

RB transcriptional corepressor like 2

HCNC Approved Symbol: RBL2 (HGNC:9894)
Genomic Coordinates: 16:53,434,471 - 53,491,648 (16q12.2)
Synonyms: Rb2, p130
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

1Patient

In total, 1 patient was diagnosed with a variant in the RBL2 gene.

Frequently observed phenotypes(Top 5 only)

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

01
Patient count

Cerebellar atrophy: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Global developmental delay: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)

Last updated: 2024-06-30

RBL2 - Gene browser | 3billion