Microcephaly
Gene: ADARB1

ADARB1 (adenosine deaminase, RNA specific B1)
EnsemblGeneIds (GRCh38): ENSG00000197381
EnsemblGeneIds (GRCh37): ENSG00000197381
OMIM: 601218, Gene2Phenotype
ADARB1 is in 5 panels

2 reviews

Arina Puzriakova (Genomics England)

Green List (high evidence)

PMID: 32719099 (2020) - Three additional patients from two consanguineous families with novel biallelic variants in the ADARB1 gene. All affected individuals presented global DD, severe-profound ID, intractable early infantile-onset seizures, severe microcephaly, axial hypotonia and progressive appendicular spasticity. In vitro RNA editing assays showed that both variants resulted in severe impairment or loss of ADAR2 enzymatic activity.
Created: 1 Sep 2020, 12:54 p.m. | Last Modified: 1 Sep 2020, 12:54 p.m.

Panel Version: 0.266

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder with hypotonia, microcephaly, and seizures, 618862

Publications

Created: 1 Sep 2020, 12:54 p.m.
Last Modified: 1 Sep 2020, 12:54 p.m.
Panel version: 0.266

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Four unrelated individuals with bi-allelic variants in this gene.
Sources: Literature
Created: 1 Apr 2020, 9:42 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intellectual disability; microcephaly; seizures

Publications

32220291

Created: 1 Apr 2020, 9:42 a.m.

Panel version: 0.101

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Literature

Phenotypes

Neurodevelopmental disorder with hypotonia, microcephaly, and seizures, 618862
Intellectual disability
microcephaly
seizures

OMIM

601218

Clinvar variants

Variants in ADARB1

Penetrance

None

Publications

Panels with this gene