Version 4.4
Latest signed off version: v4.0
(22 Mar 2023)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- NHS GMS
- Expert Review Green
- Other
Phenotypes
- Polyhydramnios, megalencephaly, and symptomatic epilepsy, OMIM:611087
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Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 4.13
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Renal superpanel - broad
Renal superpanel - narrow
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review
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BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Other
Phenotypes
- Polyhydramnios, megalencephaly, and symptomatic epilepsy, 611087
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Version 3.41
Latest signed off version: v3.0
(22 Mar 2023)
Component of the following Super Panels:
Renal superpanel - broad
|
review
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BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Amber
Phenotypes
- Polyhydramnios, megalencephaly, and symptomatic epilepsy, 611087
Tags
|
Version 3.164
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Literature
Phenotypes
- Polyhydramnios, megalencephaly, and symptomatic epilepsy, OMIM:611087
- Polyhydramnios, megalencephaly, and symptomatic epilepsy, MONDO:0012611
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Version 3.88
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
- Polyhydramnios, megalencephaly, and symptomatic epilepsy, OMIM:611087
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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
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Wessex and West Midlands GLH
- NHS GMS
- NIHRBR-RD Consortium SPEED_v3.0_20170404
- Victorian Clinical Genetics Services
- Expert Review Green
- Expert list
Phenotypes
- Polyhydramnios, megalencephaly, and symptomatic epilepsy 611087
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.544
Latest signed off version: v5.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
|
review
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BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- Polyhydramnios, megalencephaly, and symptomatic epilepsy, MIM:611087 (includes mental retardation)
- severe psychomotor retardation
Tags
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Version 1.184
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Polyhydramnios, megalencephaly, and symptomatic epilepsy, 611087
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