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Level 2: Viral research
Version 1.141
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- Expert Review Green
- IUIS Classification December 2019
- IUIS Classification December 2019
Phenotypes
- Recurrent respiratory and skin infections, growth retardation, , developmental delay
- NFE2L2 GOF
- increased expression of stress response genes
- Immunodeficiency, developmental delay, and hypohomocysteinemia, 617744
- Combined immunodeficiencies with associated or syndromic features
- white matter cerebral lesions, increased level of homocysteine
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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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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- Expert Review Green
- IUIS Classification December 2019
Phenotypes
- white matter cerebral lesions, increased level of homocysteine
- Recurrent respiratory and skin infections, growth retardation, , developmental delay
- Immunodeficiency, developmental delay, and hypohomocysteinemia, 617744
- NFE2L2 GOF
- increased expression of stress response genes
- Combined immunodeficiencies with associated or syndromic features
- mmunodeficiency, developmental delay, and hypohomocysteinemia, 617744
- Recurrent respiratory and skin infection
- Growth retardation
- Developmental delay, borderline ID
- White matter cerebral lesions
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Version 3.87
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- NFE2L2-related leukoencephalopathy, immune deficiency and hypohomocysteinaemia, OMIM:617744
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Version 1.184
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Immunodeficiency, developmental delay, and hypohomocysteinemia, 617744
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