FOLR1

folate receptor 1
OMIM: 136430
PanelMode of inheritanceDetails
9 panels
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 5.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodegeneration due to cerebral folate transport deficiency, 613068
R-numbers: R57
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodegeneration due to cerebral folate transport deficiency, 613068, Folate receptor alpha deficiency
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
NEURODEGENERATION DUE TO CEREBRAL FOLATE TRANSPORT DEFICIENCY 613068
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 5.10
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodegeneration due to cerebral folate transport deficiency, 613068, seizures
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
NEURODEGENERATION DUE TO CEREBRAL FOLATE TRANSPORT DEFICIENCY
R-numbers: R54
Signed-off version 5.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodegeneration due to cerebral folate transport deficiency, 613068, Neurodegeneration due to cerebral folate transport deficiency
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
NEURODEGENERATION DUE TO CEREBRAL FOLATE TRANSPORT DEFICIENCY
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 5.6
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodegeneration due to cerebral folate transport deficiency, 613068, Cerebral folate deficiency due to FOLR1 deficiency (Disorders of folate metabolism and transport)
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodegeneration due to cerebral folate transport deficiency, 613068