Genomics England
GMS Panels
Panels
Genes and Entities

ADARB1

adenosine deaminase, RNA specific B1
OMIM: 601218
PanelMode of inheritanceDetails
3 panels
Green
in Genetic epilepsy syndromes
R-numbers: R59
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with hypotonia, microcephaly, and seizures, 618862
Green
in Intellectual disability
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with hypotonia, microcephaly, and seizures, 618862
Green
in Severe microcephaly
R-numbers: R88
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with hypotonia, microcephaly, and seizures, OMIM:618862