Genomics England
GMS Panels
Panels
Genes and Entities

ADA

adenosine deaminase
OMIM: 608958
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ADENOSINE DEAMINASE DEFICIENCY 102700
Green
in Likely inborn error of metabolism
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Severe combined immunodeficiency due to ADA deficiency, OMIM:102700, Adenosine deaminase deficiency, partial, OMIM:102700
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Severe combined immunodeficiency due to ADA deficiency, OMIM:102700, Adenosine deaminase deficiency, partial, OMIM:102700
Green
in Severe combined immunodeficiency with adenosine deaminase deficiency
R-numbers: R16
Signed-off version 1.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes