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 2.23
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodegeneration due to cerebral folate transport deficiency, 613068
R-numbers: R57
Signed-off version 1.137
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 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
NEURODEGENERATION DUE TO CEREBRAL FOLATE TRANSPORT DEFICIENCY 613068
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
NEURODEGENERATION DUE TO CEREBRAL FOLATE TRANSPORT DEFICIENCY
R-numbers: R59
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodegeneration due to cerebral folate transport deficiency, 613068, seizures
R-numbers: R54
Signed-off version 2.13
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:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
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:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
NEURODEGENERATION DUE TO CEREBRAL FOLATE TRANSPORT DEFICIENCY
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 1.12
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodegeneration due to cerebral folate transport deficiency, 613068