Severe microcephalyGene: ADARB1
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Created: 9 Jul 2020, 1:21 p.m. | Last Modified: 9 Jul 2020, 1:21 p.m.
Panel Version: 2.11
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, 12:47 p.m. | Last Modified: 1 Sep 2020, 12:47 p.m.
Panel Version: 2.19
Gene is associated with phenotype in OMIM and G2P.
PMID: 32220291 - Bi-allelic variants reported in four unrelated individuals with severe/profound intellectual disability, microcephaly, and seizures. Functional studies demonstrate variants result in reduction in ADARB1 product activity or changes in splicing.
PMID: 10894545 - Homozygous knockout mice presented with siezures and early death, supporting the role of ADARB1 in brain function
This gene has also been added to the Genetic Epilepsy and Intellectual Disability panels with a suggested Green classification at the next major review.
Created: 9 Jul 2020, 11:37 a.m. | Last Modified: 14 Jul 2020, 1:35 p.m.
Panel Version: 2.11
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Neurodevelopmental disorder with hypotonia, microcephaly, and seizures, 618862
Publications for gene: ADARB1 were set to 32220291
Tag for-review tag was added to gene: ADARB1.
Gene: adarb1 has been classified as Amber List (Moderate Evidence).
gene: ADARB1 was added gene: ADARB1 was added to Severe microcephaly. Sources: Literature Mode of inheritance for gene: ADARB1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADARB1 were set to 32220291 Phenotypes for gene: ADARB1 were set to Neurodevelopmental disorder with hypotonia, microcephaly, and seizures, 618862 Review for gene: ADARB1 was set to GREEN