Neurotransmitter disorders

Gene: FOLR1

Green List (high evidence)

FOLR1 (folate receptor 1)
EnsemblGeneIds (GRCh38): ENSG00000110195
EnsemblGeneIds (GRCh37): ENSG00000110195
OMIM: 136430, Gene2Phenotype
FOLR1 is in 18 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Comment on list classification: Changed status to Green due to expert review and evidence in the literature to support the phenotype
Created: 25 May 2017, 10:14 a.m.
Comment on publications: added publications to support phenotype. Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least six variants reported four cases.
Created: 25 May 2017, 10:13 a.m.
Added treatable tag. Clinical Genomic Database Comments (NIH/NHGRI): Diagnosis is critical, as the natural history includes severe neurodegeneration and neurologic impairment, and treatment with folinic acid (it is important to note that response to such treatment is better when initiated in early childhood) can reverse symptoms and improve brain abnormalities and function
Created: 25 May 2017, 9:56 a.m.

Manju Kurian (UCL-Institute of Child Health)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

History Filter Activity

25 May 2017, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

25th May 2017. Panel reviews were assessed, and panel was revised according to reviews and further curation.

25 May 2017, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for FOLR1 were set to 2044715; 21937992; 19732866;27830117

25 May 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for FOLR1 were set to Neurodegeneration due to cerebral folate transport deficiency, 613068;Folate receptor alpha deficiency

25 May 2017, Gel status: 4

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

25 May 2017, Gel status: 0

Set publications

Louise Daugherty (Genomics England Curator)

Publications for FOLR1 were set to 2044715; 21937992;19732866

25 May 2017, Gel status: 0

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for FOLR1 were set to Neurodegeneration due to cerebral folate transport deficiency, 613068

1 Mar 2017, Gel status: 0

Created

Manju Kurian (UCL-Institute of Child Health)

FOLR1 was created by Manju

1 Mar 2017, Gel status: 0

Added New Source

Manju Kurian (UCL-Institute of Child Health)

FOLR1 was added to Neurotransmitter disorderspanel. Sources: Literature