Inherited white matter disorders

Gene: FOLR1

Green List (high evidence)

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

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

Sarah Leigh (Genomics England Curator)

FOLR1 was added to Inherited white matter disorderspanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN