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Intellectual disability

Gene: ADARB1

No list

ADARB1 (adenosine deaminase, RNA specific B1)
EnsemblGeneIds (GRCh38): ENSG00000197381
EnsemblGeneIds (GRCh37): ENSG00000197381
OMIM: 601218, Gene2Phenotype
ADARB1 is in 1 panel

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Four unrelated individuals with bi-allelic variants in this gene. Suggest also adding to Genetic Epilepsy and Microcephaly panels.
Sources: Literature
Created: 1 Apr 2020, 9:40 a.m. | Last Modified: 1 Apr 2020, 9:41 a.m.
Panel Version: 3.24

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intellectual disability; microcephaly; seizures

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Intellectual disability
  • microcephaly
  • seizures
OMIM
601218
Clinvar variants
Variants in ADARB1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Apr 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: ADARB1 was added gene: ADARB1 was added to Intellectual disability. 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 Intellectual disability; microcephaly; seizures Review for gene: ADARB1 was set to GREEN gene: ADARB1 was marked as current diagnostic