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
- London North GLH
- 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
Phenotypes
- Combined immunodeficiencies with associated or syndromic features
- Immunodeficiency-centromeric instability-facial anomalies syndrome-2 614069
- Immunodeficiency centromeric instability facial anomalies syndrome (ICF)
- Facial dysmorphic features, macroglossia, bacterial/opportunistic infections, malabsorption, cytopenias, malignancies, multiradial configurations of chromosomes 1, 9, 16
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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
- 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
Phenotypes
- Immunodeficiency-centromeric instability-facial anomalies syndrome-2 614069
- Immunodeficiency centromeric instability facial anomalies syndrome (ICF)
- Facial dysmorphic features, macroglossia, bacterial/opportunistic infections, malabsorption, cytopenias, malignancies, multiradial configurations of chromosomes 1, 9, 16
- Combined immunodeficiencies with associated or syndromic features
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Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 4.108
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
Phenotypes
- IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2
- ICF2
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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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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Victorian Clinical Genetics Services
- Expert Review Green
- Literature
Phenotypes
- Immunodeficiency-centromeric instability-facial anomalies syndrome 2, 614069
- intellectual disability
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Version 1.184
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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-centromeric instability-facial anomalies syndrome 2, 614069
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