ADA

adenosine deaminase
OMIM: 608958, Gene2Phenotype

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Green ADA in Infantile enterocolitis & monogenic inflammatory bowel disease Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Version 1.45	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Expert list Phenotypes Severe combined immunodeficiency due to ADA deficiency (SCID) 102700 Tags gene-therapy-trial
Amber ADA in Gastrointestinal epithelial barrier disorders Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Version 1.76	review	Not set	Sources Expert Review Amber UKGTN Radboud University Medical Center, Nijmegen Phenotypes Gastrointestinal defects and immunodeficiency syndrome, 243150 Inflammatory Bowel Disease (Very Early Onset)
Green ADA in COVID-19 research Level 2: Viral research Version 1.146	review	BIALLELIC, autosomal or pseudoautosomal	Sources IUIS Classification February 2018 SCID v1.6 London North GLH GOSH PID v.8.0 NHS GMS GRID V2.0 Victorian Clinical Genetics Services North West GLH ESID Registry 20171117 Combined B and T cell defect v1.12 Expert Review Green NHS GMS North West GLH London North GLH IUIS Classification February 2018 Victorian Clinical Genetics Services Expert Review Green ESID Registry 20171117 GRID V2.0 GOSH PID v.8.0 SCID v1.6 Combined B and T cell defect v1.12 Phenotypes Severe combined immunodeficiency due to ADA deficiency, 102700 Low NK, bone defects, may have pulmonary alveolar proteinosis, cognitive defects Atypical Severe Combined Immunodeficiency (Atypical SCID) Immunodeficiencies affecting cellular and humoral immunity Adenosine deaminase (ADA) deficiency T-B+ SCID Omenn syndrome Severe combined immunodeficiency (SCID) T-B- SCID Severe combined immunodeficiency due to ADA deficiency (some mosiacism noted)
Green ADA in Primary immunodeficiency or monogenic inflammatory bowel disease Level 2: Immunology Version 8.78 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other NHS GMS North West GLH London North GLH IUIS Classification February 2018 Victorian Clinical Genetics Services ESID Registry 20171117 GRID V2.0 GOSH PID v.8.0 SCID v1.6 Combined B and T cell defect v1.12 Phenotypes Severe combined immunodeficiency due to ADA deficiency, OMIM:102700 Adenosine deaminase deficiency, partial, OMIM:102700 Tags gene-therapy-trial
Amber ADA in Haematological malignancies cancer susceptibility Level 2: Cancer susceptibility Version 4.37 Latest signed off version: v4.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Severe combined immunodeficiency due to ADA deficiency, OMIM: 102700
Green ADA in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.642	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Severe combined immunodeficiency due to ADA deficiency, OMIM:102700 Adenosine deaminase deficiency, partial, OMIM:102700 Tags gene-therapy-trial
Green ADA in Likely inborn error of metabolism Level 2: Metabolic Version 8.91 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Severe combined immunodeficiency due to ADA deficiency, OMIM:102700 Adenosine deaminase deficiency, partial, OMIM:102700
Red ADA in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red PAGE DD-Gene2Phenotype Phenotypes Severe combined immunodeficiency due to ADA deficiency, OMIM:102700 Adenosine deaminase deficiency, partial, OMIM:102700
Green ADA in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ADENOSINE DEAMINASE DEFICIENCY 102700
Amber ADA in Intellectual disability Level 2: Developmental disorders Version 9.285 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Severe combined immunodeficiency due to ADA deficiency, OMIM:102700 Adenosine deaminase deficiency, partial, OMIM:102700 Tags gene-therapy-trial
Red ADA in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.13 Latest signed off version: v7.0 (30 Apr 2025)	review	Not set	Sources Expert Review Red London North GLH
Red ADA in Autoinflammatory disorders Level 2: Immunology Version 2.35 Latest signed off version: v2.0 (1 May 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Severe combined immunodeficiency due to ADA deficiency, OMIM:102700 Adenosine deaminase deficiency, partial, OMIM:102700
Green ADA in Severe combined immunodeficiency with adenosine deaminase deficiency Level 2: Immunology Version 1.5 Latest signed off version: v1.0 (14 Sep 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Severe combined immunodeficiency due to ADA deficiency, OMIM:102700 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency, MONDO:0007064