Level 2: Viral research
Version 1.141
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review
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BIALLELIC, autosomal or pseudoautosomal
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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
- 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
Phenotypes
- Combined immunodeficiency
- Autoimmune haemolytic anemia, neurological impairment
- Immunodeficiency due to purine nucleoside phosphorylase deficiency
- Atypical Severe Combined Immunodeficiency (Atypical SCID)
- T-B+ SCID
- Combined immunodeficiencies with associated or syndromic features
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Version 4.201
Latest signed off version: v4.0
(22 Mar 2023)
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review
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BIALLELIC, autosomal or pseudoautosomal
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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
Phenotypes
- Immunodeficiency due to purine nucleoside phosphorylase deficiency
- T-B+ SCID
- Atypical Severe Combined Immunodeficiency (Atypical SCID)
- Combined immunodeficiency
- Autoimmune haemolytic anemia, neurological impairment
- Combined immunodeficiencies with associated or syndromic features
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Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.617
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Literature
Phenotypes
- Immunodeficiency due to purine nucleoside phosphorylase deficiency 613179
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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
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- London North GLH
- NHS GMS
Phenotypes
- Immunodeficiency due to purine nucleoside phosphorylase deficiency 613179
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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
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review
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Not set
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Sources
- Expert Review Red
- Radboud University Medical Center, Nijmegen
Phenotypes
- Immunodeficiency due to purine nucleoside phosphorylase deficiency, 613179
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Version 3.75
Latest signed off version: v3.0
(22 Mar 2023)
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review
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Not set
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Sources
- Expert Review Red
- London North GLH
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Version 1.184
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Immunodeficiency due to purine nucleoside phosphorylase deficiency, 613179
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Version 1.1
Latest signed off version: v1.0
(14 Sep 2023)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- NHS GMS
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