3billion
back to listBack to List

ADARB1

adenosine deaminase RNA specific B1

HCNC Approved Symbol
ADARB1 (HGNC:226)
Genomic Coordinates
21:45,074,578 - 45,226,563 (21q22.3)
Synonyms
ADAR2, DRADA2, ADAR2g, DRABA2, RED1, hRED1, ADAR2a-L1, ADAR2a-L2, ADAR2a-L3, ADAR2a, ADAR2b, ADAR2c, ADAR2d
Disease Associations
This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

2Patients

In total, 2 patients were diagnosed with a variant in the ADARB1 gene.

Frequently observed phenotypes

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

Abnormal facial shape
 1 (50.0%)
Growth delay
 1 (50.0%)
Intellectual disability
 1 (50.0%)
Open mouth
 1 (50.0%)
Protruding ear
 1 (50.0%)
ADARB1 - Gene browser | 3billion