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Severe microcephaly

Gene: ADARB1

Amber List (moderate evidence)

ADARB1 (adenosine deaminase, RNA specific B1)
EnsemblGeneIds (GRCh38): ENSG00000197381
EnsemblGeneIds (GRCh37): ENSG00000197381
OMIM: 601218, Gene2Phenotype
ADARB1 is in 3 panels

2 reviews

Sarah Leigh (Genomics England Curator)

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

Arina Puzriakova (Genomics England Curator)

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, 12:47 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

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

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurodevelopmental disorder with hypotonia, microcephaly, and seizures, 618862
Tags
for-review
OMIM
601218
Clinvar variants
Variants in ADARB1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Sep 2020, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: ADARB1 were set to 32220291

9 Jul 2020, Gel status: 2

Added Tag

Sarah Leigh (Genomics England Curator)

Tag for-review tag was added to gene: ADARB1.

9 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: adarb1 has been classified as Amber List (Moderate Evidence).

9 Jul 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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