Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.10
|
review
|
Unknown
|
Sources
- Expert Review Red
- Literature
Phenotypes
|
Version 4.58
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Hereditary ataxia and cerebellar anomalies - childhood onset
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- NHS GMS
- Expert Review Green
- Expert list
Phenotypes
- Intellectual developmental disorder with or without epilepsy or cerebellar ataxia OMIM:618060
- intellectual developmental disorder with or without epilepsy or cerebellar ataxia MONDO:0060745
|
Version 3.146
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Amber
- PAGE DD-Gene2Phenotype
Phenotypes
|
Version 3.79
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
- Expert Review Green
- DD-Gene2Phenotype
Phenotypes
|
Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 4.183
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, imprinted status unknown
|
Sources
- Wessex and West Midlands GLH
- NHS GMS
- Expert Review Green
- Literature
Phenotypes
- Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, 618060
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.506
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, imprinted status unknown
|
Sources
- Expert Review Green
- Literature
Phenotypes
- Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, 618060
|
Version 4.30
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Amber
- London North GLH
- NHS GMS
- Wessex and West Midlands GLH
Phenotypes
- Intellectual developmental disorder with or without epilepsy or cerebellar ataxia OMIM:618060
- intellectual developmental disorder with or without epilepsy or cerebellar ataxia MONDO:0060745
|
Version 1.182
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, 618060
|