Version 0.65
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- ClinGen
- Expert Review Green
- Other
Phenotypes
- Alacrimia-choreoathetosis-liver dysfunction syndrome
- OrphaNet: ORPHA404454
- OMIM:615273
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Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 5.3
Latest signed off version: v5.0
(1 May 2024)
Component of the following Super Panels:
Hereditary ataxia and cerebellar anomalies - childhood onset
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Emory Genetics Laboratory
Phenotypes
- Congenital disorder of deglycosylation 615273
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Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.617
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Expert Review
Phenotypes
- Alacrimia-choreoathetosis-liver dysfunction syndrome
- OrphaNet: ORPHA404454
- OMIM:615273
|
Version 5.3
Latest signed off version: v5.0
(1 May 2024)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
Unexplained death in infancy and sudden unexplained death in childhood
|
review
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BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- OrphaNet: ORPHA404454
- Congenital disorder of deglycosylation 615273
- Alacrimia-choreoathetosis-liver dysfunction syndrome
- OMIM:615273
|
Version 4.1
Latest signed off version: v4.0
(1 May 2024)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- PAGE DD-Gene2Phenotype
Phenotypes
- CONGENITAL DISORDER OF DEGLYCOSYLATION
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Version 4.3
Latest signed off version: v4.0
(1 May 2024)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- CONGENITAL DISORDER OF DEGLYCOSYLATION 615273
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Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 5.10
Latest signed off version: v5.0
(1 May 2024)
Component of the following Super Panels:
Paediatric disorders
Unexplained death in infancy and sudden unexplained death in childhood
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Wessex and West Midlands GLH
- NHS GMS
- Expert Review Green
- Victorian Clinical Genetics Services
Phenotypes
- Congenital disorder of deglycosylation 615273
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.13
Latest signed off version: v6.0
(1 May 2024)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- CONGENITAL DISORDER OF DEGLYCOSYLATION
- CDDG
|
Version 4.3
Latest signed off version: v4.0
(1 May 2024)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- London North GLH
Phenotypes
- Congenital disorder of deglycosylation, 615273
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Version 1.184
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Congenital disorder of deglycosylation, 615273
|