Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.43
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review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Radboud University Medical Center, Nijmegen
- Expert list
Phenotypes
- Severe combined immunodeficiency due to ADA deficiency (SCID) 102700
Tags
|
Level 3: Clinical trials
Level 2: Actionable information
Version 0.9
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review
|
Not set
|
Sources
- Expert Review Green
- ClinicalTrials.gov
Phenotypes
- Adenosine deaminase (ADA) deficiency
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Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.75
|
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)
|
Level 2: Viral research
Version 1.141
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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)
|
Version 4.201
Latest signed off version: v4.0
(22 Mar 2023)
|
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
|
Version 0.36
|
review
|
Not set
|
Sources
|
Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 4.4
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- severe combined immunodeficiency
|
Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.617
|
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
|
Version 4.137
Latest signed off version: v4.0
(22 Mar 2023)
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
|
Version 3.155
Latest signed off version: v3.0
(22 Mar 2023)
|
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
|
Version 3.87
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- ADENOSINE DEAMINASE DEFICIENCY 102700
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.532
Latest signed off version: v5.0
(22 Mar 2023)
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
|
Version 3.75
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
Not set
|
Sources
- Expert Review Red
- London North GLH
|
Version 1.184
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Adenosine deaminase deficiency, partial, 102700
- Severe combined immunodeficiency due to ADA deficiency, 102700
|
Level 3: Primary immunodeficiency disorders
Level 2: Haematological disorders
Version 1.17
Latest signed off version: v1.0
(30 Nov 2022)
|
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
|
Version 1.3
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
|