Level 3: Fetal disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.64
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Amber
- Expert list
Phenotypes
- Congenital disorder of glycosylation, type II, MIM#608776
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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
- Radboud University Medical Center, Nijmegen
- Literature
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
Phenotypes
- ALG9-CDG (Disorders of protein N-glycosylation)
- Congenital disorder of glycosylation, type Il 608776
- Mannosyltransferase 7-9 deficiency (Disorders of protein N-glycosylation)
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Version 1.31
Latest signed off version: v1.26
(22 Mar 2023)
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- Expert Review Amber
- Literature
Phenotypes
- autosomal dominant polycystic kidney disease, MONDO:0004691
- PCLD
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Level 3: Structural renal and urinary tract disease
Level 2: Renal and urinary tract disorders
Version 5.3
Latest signed off version: v5.0
(1 May 2024)
Component of the following Super Panels:
Cystic renal disease
Renal superpanel - broad
Renal superpanel - narrow
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review
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BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Expert Review
Phenotypes
- cystic liver disease
- cystic kidney disease
- Gillessen-Kaesbach-Nishimura syndrome, 263210
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Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 5.3
Latest signed off version: v5.0
(1 May 2024)
Component of the following Super Panels:
Paediatric disorders
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review
|
BIALLELIC, autosomal or pseudoautosomal
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Sources
- NHS GMS
- Expert Review Green
Phenotypes
- Gillessen-Kaesbach-Nishimura syndrome 263210
- Congenital disorder of glycosylation, type Il 608776
- Gillessen-Kaesbach-Nishimura syndrome 263210
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Version 4.3
Latest signed off version: v4.0
(1 May 2024)
Component of the following Super Panels:
Renal superpanel - broad
|
review
|
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
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Sources
- Expert Review Green
- NHS GMS
Phenotypes
- cystic liver disease
- cystic kidney disease
- Gillessen-Kaesbach-Nishimura syndrome, 263210
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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
- Literature
Phenotypes
- Mannosyltransferase 7-9 deficiency (Disorders of protein N-glycosylation)
- ALG9-CDG (Disorders of protein N-glycosylation)
- Congenital disorder of glycosylation, type Il 608776
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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
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review
|
BIALLELIC, autosomal or pseudoautosomal
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Sources
- London North GLH
- NHS GMS
- Expert Review Green
Phenotypes
- Mannosyltransferase 7-9 deficiency (Disorders of protein N-glycosylation)
- ALG9-CDG (Disorders of protein N-glycosylation)
- Congenital disorder of glycosylation, type Il 608776
|
Version 4.1
Latest signed off version: v4.0
(1 May 2024)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- PAGE DD-Gene2Phenotype
Phenotypes
- Gillessen-Kaesbach-Nishimura syndrome, 263210
- AR lethal skeletal dysplasia
- ALG9-CDG
- Congenital disorder of glycosylation, type Il, 608776
- NIHF
- hydops fetalis
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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
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Sources
- Expert Review Green
- DD-Gene2Phenotype
Phenotypes
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Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 5.3
Latest signed off version: v5.0
(1 May 2024)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
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Sources
Phenotypes
- GILLESSEN-KAESBACH-NISHIMURA SYNDROME
- GIKANIS
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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
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review
|
BIALLELIC, autosomal or pseudoautosomal
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Sources
- Wessex and West Midlands GLH
- NHS GMS
- Expert Review Green
- Victorian Clinical Genetics Services
Phenotypes
- Congenital disorder of glycosylation type Il 608776
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.12
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
- Expert Review Green
- Victorian Clinical Genetics Services
Phenotypes
- Developmental delay
- Congenital disorder of glycosylation, type Il 608776
- Gillessen-Kaesbach-Nishimura syndrome 263210
|
Version 4.3
Latest signed off version: v4.0
(1 May 2024)
|
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
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Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Congenital disorder of glycosylation, type Il, 608776
- Gillessen-Kaesbach-Nishimura syndrome, 263210
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