Level 2: Viral research
Version 1.142
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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
- Expert Review Green
- IUIS Classification February 2018
- Victorian Clinical Genetics Services
- ESID Registry 20171117
- GRID V2.0
Phenotypes
- Polyglucosan body myopathy 1 with or without immunodeficiency, OMIM:615895
- Bacterial infections, autoinflammation, amylopectinosis
- Combined immunodeficiencies with associated or syndromic features
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Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.48
Latest signed off version: v3.0
(22 Mar 2023)
Component of the following Super Panels:
Hypotonic infant
Other rare neuromuscular disorders
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review
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BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Expert Review
- Radboud University Medical Center, Nijmegen
- UKGTN
Phenotypes
- Polyglucosan body myopathy 1 with or without immunodeficiency, OMIM:615895
|
Version 19.202
Latest signed off version: v19.1
(22 Mar 2023)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
Phenotypes
- Polyglucosan body myopathy 1 with or without immunodeficiency
- Polyglucosan body myopathy, early-onset, with or without immunodeficiency, 615895
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Version 2.4
Latest signed off version: v2.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
- Expert list
Phenotypes
- Polyglucosan body myopathy 1 with or without immunodeficiency OMIM:615895
- polyglucosan body myopathy 1 with or without immunodeficiency MONDO:0014389
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Version 4.202
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
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
Phenotypes
- Polyglucosan body myopathy 1 with or without immunodeficiency, OMIM:615895
- Bacterial infections, autoinflammation, amylopectinosis
- Combined immunodeficiencies with associated or syndromic features
|
Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.31
Latest signed off version: v5.0
(22 Mar 2023)
|
review
|
Not set
|
Sources
- Expert Review Red
- Radboud University Medical Center, Nijmegen
Phenotypes
- Polyglucosan body myopathy 1 with or without immunodeficiency, OMIM:615895
|
Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.37
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Hypotonic infant
Other rare neuromuscular disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- Radboud University Medical Center, Nijmegen
Phenotypes
- Polyglucosan body myopathy 1 with or without immunodeficiency, OMIM:615895
|
Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.617
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- UKGTN
Phenotypes
- Polyglucosan body myopathy 1 with or without immunodeficiency, OMIM:615895
|
Version 4.137
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
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Polyglucosan body myopathy 1 with or without immunodeficiency, OMIM:615895
|
Version 3.78
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
Not set
|
Sources
- Expert Review Red
- London North GLH
|
Version 1.184
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Polyglucosan body myopathy 1 with or without immunodeficiency, 615895
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Level 3: Primary immunodeficiency disorders
Level 2: Haematological disorders
Version 1.17
Latest signed off version: v1.0
(30 Nov 2022)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
Phenotypes
- Polyglucosan body myopathy 1 with or without immunodeficiency, OMIM:615895
|
Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.18
Latest signed off version: v1.7
(31 May 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Amber
Phenotypes
- Polyglucosan body myopathy 1 with or without immunodeficiency, OMIM:615895
|