Version 0.36
|
review
|
Not set
|
Sources
|
Version 4.3
Latest signed off version: v4.0
(1 May 2024)
Component of the following Super Panels:
Renal superpanel - broad
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- NHS GMS
Phenotypes
- Hypomagnesemia, seizures, and mental retardation 2 618314
- Charcot-Marie-Tooth disease, axonal, type 2DD, 618036
|
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
- Renal Hypomagnesemia Refractory Seizures and Intellectual Disability
|
Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.478
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- NHS GMS
- London North GLH
Phenotypes
- Charcot-Marie-Tooth disease, axonal, type 2DD, 618036
|
Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 4.17
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Renal superpanel - broad
Renal superpanel - narrow
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- NHS GMS
Phenotypes
- Hypomagnesemia, seizures, and mental retardation 2 618314
- Charcot-Marie-Tooth disease, axonal, type 2DD, 618036
|
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
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Wessex and West Midlands GLH
- NHS GMS
- Expert Review Green
- Expert Review
- Literature
Phenotypes
- Hypomagnesemia
- Seizures
- Intellectual disability
|
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
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- Literature
- Expert Review
Phenotypes
- Hypomagnesemia
- Seizures
- Intellectual disability
|
Version 4.10
Latest signed off version: v4.0
(1 May 2024)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- London North GLH
- NHS GMS
- NHS GMS
- London North GLH
Phenotypes
- Charcot-Marie-Tooth disease, axonal, type 2DD, 618036
|
Version 1.184
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Charcot-Marie-Tooth disease, axonal, type 2DD, 618036
- Hypomagnesemia, seizures, and mental retardation 2, 618314
|