Hereditary ataxia

Gene: FOLR1

Green List (high evidence)

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

2 reviews

Damian Smedley (Genomics England Curator)

Comment on list classification: Good evidence from expert and OMIM
Created: 4 Feb 2016, 2:49 p.m.

Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)

Green List (high evidence)

Fine. Lots of evidence. Positives in our cohort
Created: 24 Nov 2015, 4:57 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

9 Jan 2019, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: FOLR1 were changed from to Neurodegeneration due to cerebral folate transport deficiency, 613068

4 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

4 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

6 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

FOLR1 was added to Hereditary ataxiapanel. Sources: UKGTN