Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.9
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- UKGTN
- Emory Genetics Laboratory
- Literature
Phenotypes
- hepatomegaly and variable myopathy
- Glycogen Storage Disorders- Liver
- Glycogen Storage Disorders- Muscle
- Glycogen Storage Disease
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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
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Sources
- NHS GMS
- Expert Review Red
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- UKGTN
- Literature
Phenotypes
- Phosphorylase kinase deficiency of liver and muscle, autosomal recessive 261750
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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
- Phosphorylase kinase deficiency of liver and muscle, autosomal recessive
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Version 2.4
Latest signed off version: v2.0
(22 Mar 2023)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- NHS GMS
- Wessex and West Midlands GLH
- London North GLH
- Expert Review Green
Phenotypes
- Glycogen storage disease Ixb, Phosphorylase kinase deficiency of liver and muscle, autosomal recessive 261750
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Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.617
|
review
|
BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Literature
Phenotypes
- Glycogen storage disease type IX Hepatic and muscle phosphorylase kinase deficiency (Glycogen storage disorders)
- hepatomegaly and variable myopathy
- Glycogen Storage Disorders- Liver
- Glycogen Storage Disorders- Muscle
- Glycogen Storage Disease
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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
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- London North GLH
- NHS GMS
- Expert Review Green
Phenotypes
- hepatomegaly and variable myopathy
- Glycogen Storage Disorders- Liver
- Glycogen Storage Disorders- Muscle
- Glycogen Storage Disease
- Glycogen storage disease type IX Hepatic and muscle phosphorylase kinase deficiency (Glycogen storage disorders)
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Version 3.77
Latest signed off version: v3.0
(22 Mar 2023)
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review
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Not set
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Sources
- Expert Review Red
- London North GLH
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Version 1.184
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Phosphorylase kinase deficiency of liver and muscle, autosomal recessive, 261750
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Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.18
Latest signed off version: v1.7
(31 May 2023)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- NHS GMS
Phenotypes
- Phosphorylase kinase deficiency of liver and muscle, autosomal recessive, OMIM:261750
Tags
- Q3_23_expert_review
- Q3_23_demote_red
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