Version 4.4
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 3, OMIM:615938
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Version 3.17
Latest signed off version: v3.3
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- UKGTN
- Expert Review
Phenotypes
- Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, 615938
- MPPH3
- Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 3
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Version 4.23
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- Victorian Clinical Genetics Services
Phenotypes
- Polydactyly
- Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 615938
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.26
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Cerebral malformation
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- UKGTN
- Literature
Phenotypes
- Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 615938
|
Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 4.88
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- NHS GMS
- Expert Review Green
- Literature
Phenotypes
- Microcephaly, MONDO:0001149
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Version 3.169
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- PAGE DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME
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Version 3.90
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 603387
|
Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 4.196
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Unexplained death in infancy and sudden unexplained death in childhood
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Red
- Wessex and West Midlands GLH
- NHS GMS
- Victorian Clinical Genetics Services
Phenotypes
- Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, 615938
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.557
Latest signed off version: v5.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Victorian Clinical Genetics Services
- Expert Review Green
Phenotypes
- MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME
|
Version 2.12
Latest signed off version: v2.6
(22 Mar 2023)
Component of the following Super Panels:
Cerebral malformation
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
Phenotypes
- Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, OMIM:615938
|
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 3, 615938
|