Version 5.3
Latest signed off version: v5.0
(1 May 2024)
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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 5.10
Latest signed off version: v5.0
(1 May 2024)
Component of the following Super Panels:
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 Amber
- Literature
Phenotypes
- Immunodeficiency 91 and hyperinflammation, OMIM:619644
- immunodeficiency 91 and hyperinflammation, MONDO:0030491
Tags
- gene-checked
- Q1_24_promote_green
- Q1_24_NHS_review
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.12
Latest signed off version: v6.0
(1 May 2024)
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
- gene-checked
- Q1_24_promote_green
- Q1_24_NHS_review
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