Version 4.196
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
- Literature
Phenotypes
- mendelian susceptibility to mycobacterial disease
- MSMD
- monocytosis.
Tags
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Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 4.183
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
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 Amber
- Literature
Phenotypes
- Immunodeficiency 91 and hyperinflammation, OMIM:619644
- immunodeficiency 91 and hyperinflammation, MONDO:0030491
Tags
- Q1_24_promote_green
- Q1_24_NHS_review
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.506
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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BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Amber
- Literature
Phenotypes
- Immunodeficiency 91 and hyperinflammation, OMIM:619644
- immunodeficiency 91 and hyperinflammation, MONDO:0030491
Tags
- Q1_24_promote_green
- Q1_24_NHS_review
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