Level 2: Viral research
Version 1.142
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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
- SCID, autosomal recessive, T-negative/B-positive type
- Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
- Severe Combined Immune Deficiency
- Atypical Severe Combined Immunodeficiency (Atypical SCID)
- Immunodeficiencies affecting cellular and humoral immunity
- JAK3 deficiency
- T-B+ SCID
- Omenn syndrome
- Severe combined immunodeficiency (SCID)
- Low NK
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Version 4.202
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
- SCID, autosomal recessive, T-negative/B-positive type
- Severe Combined Immune Deficiency
- T-B+ SCID
- Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
- JAK3 deficiency
- Atypical Severe Combined Immunodeficiency (Atypical SCID)
- Omenn syndrome
- Severe combined immunodeficiency (SCID)
- Low NK
- Immunodeficiencies affecting cellular and humoral immunity
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Level 3: Anaemias and red cell disorders
Level 2: Haematological disorders
Version 1.118
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review
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Unknown
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Sources
- Expert Review Red
- BRIDGE consortium (NIHRBR-RD)
Phenotypes
- Myelodysplastic syndrome (MDS), Paediatric
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Version 3.169
Latest signed off version: v3.0
(22 Mar 2023)
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Red
- PAGE DD-Gene2Phenotype
Phenotypes
- SEVERE COMBINED IMMUNE DEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL -POSITIVE, NK CELL-NEGATIVE, JAK3-RELATED
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Version 3.90
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
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BIALLELIC, autosomal or pseudoautosomal
|
Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- SEVERE COMBINED IMMUNE DEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL -POSITIVE, NK CELL-NEGATIVE, JAK3-RELATED 600802
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.557
Latest signed off version: v5.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Red
- BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- SCID, autosomal recessive, T-negative/B-positive type, 600802
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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
- SCID, autosomal recessive, T-negative/B-positive type, 600802
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