Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.2
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
Phenotypes
- Neurodegeneration due to cerebral folate transport deficiency, 613068
|
Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.9
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Literature
Phenotypes
- Neurodegeneration due to cerebral folate transport deficiency, 613068
- Folate receptor alpha deficiency
Tags
|
Level 2: Viral research
Version 1.142
|
review
|
Unknown
|
Sources
- Expert Review Amber
- OMIM
- Expert list
|
Version 3.35
Latest signed off version: v3.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Neurodegeneration due to cerebral folate transport deficiency, 613068
|
Version 4.64
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Hereditary ataxia and cerebellar anomalies - childhood onset
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Neurodegeneration due to cerebral folate transport deficiency, 613068
|
Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.332
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- UKGTN
Phenotypes
- Neurodegeneration due to cerebral folate transport deficiency, 613068
|
Level 3: White matter disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.180
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
Phenotypes
- Neurodegeneration due to cerebral folate transport deficiency 613068
|
Version 4.47
Latest signed off version: v4.34
(31 Jul 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- Wessex and West Midlands GLH
- Yorkshire and North East GLH
- NHS GMS
- London North GLH
Phenotypes
- Neurodegeneration due to cerebral folate transport deficiency, 613068
|
Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.617
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Literature
Phenotypes
- Cerebral folate deficiency due to FOLR1 deficiency (Disorders of folate metabolism and transport)
- Neurodegeneration due to cerebral folate transport deficiency, 613068
|
Version 4.137
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
Unexplained death in infancy and sudden unexplained death in childhood
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- London North GLH
- NHS GMS
- Expert Review Green
Phenotypes
- Neurodegeneration due to cerebral folate transport deficiency, 613068
- Cerebral folate deficiency due to FOLR1 deficiency (Disorders of folate metabolism and transport)
|
Version 3.169
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- PAGE DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- NEURODEGENERATION DUE TO CEREBRAL FOLATE TRANSPORT DEFICIENCY
|
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 Green
Phenotypes
- NEURODEGENERATION DUE TO CEREBRAL FOLATE TRANSPORT DEFICIENCY 613068
|
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
- Expert Review Green
- Victorian Clinical Genetics Services
Phenotypes
- Neurodegeneration due to cerebral folate transport deficiency, 613068
- seizures
|
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
- Victorian Clinical Genetics Services
- Expert Review Green
Phenotypes
- NEURODEGENERATION DUE TO CEREBRAL FOLATE TRANSPORT DEFICIENCY
|
Version 4.34
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Wessex and West Midlands GLH
- Expert Review Green
- Hereditary ataxia v1.148
Phenotypes
- Neurodegeneration due to cerebral folate transport deficiency, 613068
- Neurodegeneration due to cerebral folate transport deficiency
|
Version 3.78
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- PanelApp
- Expert Review Green
- London North GLH
Phenotypes
- Neurodegeneration due to cerebral folate transport deficiency, 613068
- Folate receptor alpha deficiency
|
Version 1.184
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Neurodegeneration due to cerebral folate transport deficiency, 613068
|