Version 4.6
Latest signed off version: v4.0
(22 Mar 2023)
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- NHS GMS
- Expert Review Green
- Radboud University Medical Center, Nijmegen
Phenotypes
- Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, OMIM:615937
Tags
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Version 3.17
Latest signed off version: v3.3
(22 Mar 2023)
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review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- UKGTN
- Emory Genetics Laboratory
- Expert Review
Phenotypes
- Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, OMIM:615937
- Macrocephaly and Overgrowth Syndromes
Tags
|
Version 5.2
Latest signed off version: v5.0
(1 May 2024)
Component of the following Super Panels:
Paediatric disorders
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review
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Not set
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Sources
- Expert Review Red
- Victorian Clinical Genetics Services
Phenotypes
- Polydactyly
- Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 615937
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.4
Latest signed off version: v5.0
(1 May 2024)
Component of the following Super Panels:
Cerebral malformation
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review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- UKGTN
- Expert Review
Phenotypes
- Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, OMIM:615937
Tags
|
Version 2.47
Latest signed off version: v2.0
(30 Nov 2022)
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review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Amber
- London North GLH
- NHS GMS
Phenotypes
- Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, OMIM:615937
Tags
- Q3_23_promote_green
- Q3_23_NHS_review
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Version 1.63
Latest signed off version: v1.3
(15 Oct 2020)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Amber
- Expert list
Phenotypes
- Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (615937)
Tags
|
Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 5.7
Latest signed off version: v5.0
(1 May 2024)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Amber
- Expert list
Phenotypes
|
Level 3: Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
Level 2: Growth disorders
Version 1.120
|
review
|
Other
|
Sources
- Expert Review Amber
- Expert list
Phenotypes
- Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, OMIM:615937
|
Version 4.1
Latest signed off version: v4.0
(1 May 2024)
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- PAGE DD-Gene2Phenotype
Phenotypes
- Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, OMIM:615937
Tags
|
Version 4.3
Latest signed off version: v4.0
(1 May 2024)
Component of the following Super Panels:
Paediatric disorders
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- DD-Gene2Phenotype
Phenotypes
- HEMIMEGALENCEPHALY AKT3 603387
Tags
|
Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 5.6
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
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Wessex and West Midlands GLH
- NHS GMS
- Expert Review Green
- Victorian Clinical Genetics Services
Phenotypes
- Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, OMIM:615937
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.9
Latest signed off version: v6.0
(1 May 2024)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Victorian Clinical Genetics Services
- Expert Review Green
- Radboud University Medical Center, Nijmegen
Phenotypes
- Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, OMIM:615937
Tags
|
Version 2.13
Latest signed off version: v2.12
(1 May 2024)
Component of the following Super Panels:
Cerebral malformation
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
Phenotypes
- Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, OMIM:615937
- Macrocephaly and Overgrowth Syndromes
Tags
|
Version 1.184
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, 615937
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