Level 3: Liver disease
Level 2: Gastroenterological disorders
Version 1.26
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Literature
- Expert Review
Phenotypes
- Galactose epimerase deficiency, OMIM:230350
- MONDO:0009257
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Version 3.4
Latest signed off version: v3.0
(22 Mar 2023)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Expert Review
Phenotypes
- Galactose epimerase deficiency, OMIM:230350
- MONDO:0009257
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Version 3.9
Latest signed off version: v3.0
(22 Mar 2023)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Amber
- NHS GMS
- Wessex and West Midlands GLH
Phenotypes
- Inherited Thrombocytopenia assiciated with mutation of UDP-Galactose-4-Epimerase (GALE)
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Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.617
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Literature
Phenotypes
- Uridine diphosphate galactose-4-epimerase deficiency (Disorders of galactose metabolism)
- Intellectual disability
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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
- Intellectual disability
- Uridine diphosphate galactose-4-epimerase deficiency (Disorders of galactose metabolism)
- Galactose epimerase deficiency, OMIM:230350
- MONDO:0009257
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Version 3.155
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- PAGE DD-Gene2Phenotype
Phenotypes
- EPIMERASE-DEFICIENCY GALACTOSEMIA
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Version 3.87
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- EPIMERASE-DEFICIENCY GALACTOSEMIA 230350
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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
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Victorian Clinical Genetics Services
- Expert Review Green
- Radboud University Medical Center, Nijmegen
Phenotypes
- Galactose epimerase deficiency, 230350
- EPIMERASE-DEFICIENCY GALACTOSEMIA (EDG)
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Version 3.75
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
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
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Galactose epimerase deficiency, 230350
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