Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.7
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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
- UKGTN
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Literature
Phenotypes
- hepatomegaly and mild hypoglycaemia
- Glycogen storage disease, type IXa1, 306000
- Glycogen storage disease, type IXa2, 306000
- Glycogen Storage Disorders- Liver
- Glycogen Storage Disease
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Version 1.8
Latest signed off version: v1.2
(18 Feb 2020)
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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
- Wessex and West Midlands GLH
- London North GLH
- Expert Review Green
Phenotypes
- Glycogen storage disease, type IXa2 306000
- Glycogen storage disease, type IXa1 306000
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Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.542
|
review
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
- Expert Review Green
- Literature
Phenotypes
- Glycogen storage disease type IX Hepatic phosphorylase kinase deficiency (Glycogen storage disorders)
- hepatomegaly and mild hypoglycaemia
- Glycogen storage disease, type IXa1, 306000
- Glycogen storage disease, type IXa2, 306000
- Glycogen Storage Disorders- Liver
- Glycogen Storage Disease
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Version 2.263
Latest signed off version: v2.3
(17 Feb 2020)
Component of the following Super Panels:
Hypotonic infant
Paediatric disorders
White matter disorders - 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
- London North GLH
- NHS GMS
- Expert Review Green
Phenotypes
- Glycogen Storage Disease
- Glycogen Storage Disorders- Liver
- Glycogen storage disease, type IXa2, 306000
- Glycogen storage disease, type IXa1, 306000
- hepatomegaly and mild hypoglycaemia
- Glycogen storage disease type IX Hepatic phosphorylase kinase deficiency (Glycogen storage disorders)
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.1677
Latest signed off version: v3.2
(13 Feb 2020)
Component of the following Super Panels:
Hypotonic infant
Paediatric disorders
White matter disorders - childhood onset
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review
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Not set
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Sources
- Victorian Clinical Genetics Services
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Version 1.246
Latest signed off version: v1.137
(5 Aug 2021)
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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 1.127
|
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
- Glycogen storage disease, type IXa1, 306000
- Glycogen storage disease, type IXa2, 306000
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