Level 2: Viral research
Version 1.141
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review
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X-LINKED: hemizygous mutation in males, biallelic mutations in females
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Sources
- IUIS Classification February 2018
- London North GLH
- GOSH PID v.8.0
- NHS GMS
- GRID V2.0
- Victorian Clinical Genetics Services
- North West GLH
- ESID Registry 20171117
- Combined B and T cell defect v1.12
- 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
- Combined B and T cell defect v1.12
Phenotypes
- Chronic active EBV, lymphoproliferation, combined immunodeficiency, impaired t cell function
- Combined immunodeficiency
- Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia
- Immunodeficiency, X-linked, with magnesium defect
- Diseases of Immune Dysregulation
- Epstein-Barr virus infection and neoplasia (XMEN)
- EBV infection, lymphoma, viral infections, respiratory and GI infections
- XMEN syndrome
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Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 4.18
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Hereditary ataxia and cerebellar anomalies - childhood onset
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review
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X-LINKED: hemizygous mutation in males, biallelic mutations in females
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Sources
- NHS GMS
- Expert Review Green
- UKGTN
- Radboud University Medical Center, Nijmegen
- Literature
Phenotypes
- Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia 300853
- IAP-CDG (Disorders of protein N-glycosylation)
Tags
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Version 4.195
Latest signed off version: v4.0
(22 Mar 2023)
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review
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X-LINKED: hemizygous mutation in males, biallelic mutations in females
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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
- Combined B and T cell defect v1.12
Phenotypes
- Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia 300853
- Chronic active EBV, lymphoproliferation, combined immunodeficiency, impaired t cell function
- XMEN syndrome
- Immunodeficiency, X-linked, with magnesium defect
- Epstein-Barr virus infection and neoplasia (XMEN)
- Combined immunodeficiency
- EBV infection, lymphoma, viral infections, respiratory and GI infections
- Diseases of Immune Dysregulation
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Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.615
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review
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X-LINKED: hemizygous mutation in males, biallelic mutations in females
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Sources
- Expert Review Green
- Literature
Phenotypes
- Congenital disorder of glycosylation, type Icc OMIM:301031
- congenital disorder of glycosylation, type ICC MONDO:0026729
- Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia OMIM:300853
- X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia MONDO:0010455
Tags
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Version 4.134
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
Unexplained death in infancy and sudden unexplained death in childhood
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review
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X-LINKED: hemizygous mutation in males, biallelic mutations in females
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Sources
- Expert Review Green
- London North GLH
- NHS GMS
Phenotypes
- Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia 300853
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Version 3.79
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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X-LINKED: hemizygous mutation in males, biallelic mutations in females
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Sources
- DD-Gene2Phenotype
- Expert Review Red
Phenotypes
- MENTAL RETARDATION X-LINKED TYPE 95 300716
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.499
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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X-LINKED: hemizygous mutation in males, biallelic mutations in females
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Sources
- Victorian Clinical Genetics Services
- Expert Review Red
- Radboud University Medical Center, Nijmegen
Phenotypes
- Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia, 300853
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Version 3.74
Latest signed off version: v3.0
(22 Mar 2023)
|
review
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Not set
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Sources
- Expert Review Red
- London North GLH
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Version 1.182
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review
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X-LINKED: hemizygous mutation in males, biallelic mutations in females
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Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia, 300853
- Congenital disorder of glycosylation, type Icc, 301031
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