RBBP8 - Gene browser

RBBP8

RB binding protein 8, endonuclease

HCNC Approved Symbol: RBBP8 (HGNC:9891)
Genomic Coordinates: 18:22,914,139 - 23,026,486 (18q11.2)
Synonyms: CtIP, RIM, COM1, SCKL2
Disease Associations: This gene is associated with the following 3 diseases in OMIM.

1Patient

In total, 1 patient was diagnosed with a variant in the RBBP8 gene.

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

01
Patient count

Absent distal phalanges of the hand: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Absent middle phalanx of 4th finger: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Absent middle phalanx of the 5th finger: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Areflexia: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Arthrogryposis multiplex congenita: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)