Level 2: Viral research
Version 1.142
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- A- or hypo-gammaglobulinaemia v1.25
- A- or hypo-gammaglobulinaemia v1.25
Phenotypes
- ?Cerebral palsy, spastic quadriplegic, 1, 603513
|
Version 4.202
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- A- or hypo-gammaglobulinaemia v1.25
- Expert Review Red
Phenotypes
- ?Cerebral palsy, spastic quadriplegic, 1, 603513
|
Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.311
|
review
|
Not set
|
Sources
- Expert Review Red
- Radboud University Medical Center, Nijmegen
Phenotypes
- Cerebralpalsy,spasticquadriplegic,1,603513
|
Version 4.43
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Amber
- NHS GMS
- Yorkshire and North East GLH
- Radboud University Medical Center, Nijmegen
Phenotypes
- Cerebralpalsy, spasticquadriplegic, 1, 603513
|
Version 3.21
Latest signed off version: v3.14
(31 Jul 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Yorkshire and North East GLH
- Expert Review Amber
- South West GLH
Phenotypes
- Cerebralpalsy, spasticquadriplegic,1, 603513
|
Version 4.47
Latest signed off version: v4.34
(31 Jul 2023)
|
review
|
Unknown
|
Sources
- NHS GMS
- Yorkshire and North East GLH
- Expert Review Red
Phenotypes
- Cerebralpalsy,spasticquadriplegic,1,603513
|
Version 3.90
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 Red
Phenotypes
- CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 1 603513
|
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
- Expert Review Green
- Literature
Phenotypes
- ?Cerebral palsy, spastic quadriplegic, 1 603513
- Developmental and epileptic encephalopathies, cleft palate, joint contractures and/or omphalocele
|
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
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Radboud University Medical Center, Nijmegen
Phenotypes
- ?Cerebral palsy, spastic quadriplegic, 1 603513
- Developmental and epileptic encephalopathies, cleft palate, joint contractures and/or omphalocele
|
Version 1.184
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Amber
- Expert list
Phenotypes
- ?Cerebral palsy, spastic quadriplegic, 1, 603513
|