Inherited white matter disorders
Gene: FOLR1

FOLR1 (folate receptor 1)
EnsemblGeneIds (GRCh38): ENSG00000110195
EnsemblGeneIds (GRCh37): ENSG00000110195
OMIM: 136430, Gene2Phenotype
FOLR1 is in 16 panels

1 review

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Associated with phenotype in OMIM and G2P / DD. Four variants reported, two as compound heterozygotes in two German siblings and one Gambian child. The remaining two variants were found one each as homozygotes (one in a Spanish and the other in an Italian patient). Also mentioned in Update on Leukodystrophies: A Historical Perspective and Adapted Definition (PMID 27564080).
Created: 1 Sep 2016, 12:27 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodegeneration due to cerebral folate transport deficiency 613068

Publications

Created: 1 Sep 2016, 12:27 p.m.

Panel version: 0.454

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

UKGTN
Illumina TruGenome Clinical Sequencing Services
Radboud University Medical Center, Nijmegen
Emory Genetics Laboratory

Phenotypes

Neurodegeneration due to cerebral folate transport deficiency 613068

OMIM

136430

Clinvar variants

Variants in FOLR1

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

6 Oct 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.

1 Sep 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

FOLR1 was created by sleigh

1 Sep 2016, Gel status: 4

Added New Source