Version 0.36
|
review
|
Not set
|
Sources
- Expert Review Green
- SFARI
Phenotypes
- Tourette syndrome
- EP, ASD, EPS, DD/NDD, ADHD, ID
|
Version 4.1
Latest signed off version: v4.0
(1 May 2024)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Red
- PAGE DD-Gene2Phenotype
Phenotypes
|
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
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
|
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, NOT imprinted
|
Sources
- Wessex and West Midlands GLH
- NHS GMS
- NIHRBR-RD Consortium SPEED_v3.0_20170404
- Victorian Clinical Genetics Services
- Radboud University Medical Center, Nijmegen
- UKGTN
- Expert
- Expert Review Green
Phenotypes
- Epileptic encephalopathy, childhood-onset 615369
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.13
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, NOT imprinted
|
Sources
- Victorian Clinical Genetics Services
- Expert Review Green
- Radboud University Medical Center, Nijmegen
Phenotypes
- Epileptic encephalopathy, childhood-onset, 615369
- EPILEPTIC ENCEPHALOPATHY
|
Version 1.184
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Epileptic encephalopathy, childhood-onset, 615369
|