Neurotransmitter disorders

Gene: DHFR

Green List (high evidence)

DHFR (dihydrofolate reductase)
EnsemblGeneIds (GRCh38): ENSG00000228716
EnsemblGeneIds (GRCh37): ENSG00000228716
OMIM: 126060, Gene2Phenotype
DHFR is in 15 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Comment on publications: Added publications to support the phenotype
Created: 25 May 2017, 9:43 a.m.
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, 9:36 a.m.
added treatable tag. Clinical Genomic Database Comments (NIH/NHGRI): The condition manifests with neurologic sequelae and megaloblastic anemia, and medical management (eg, with folinic acid) may help improve clinical parameters
Created: 25 May 2017, 9:30 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 Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for DHFR were set to Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839; Dihydrofolate reductase deficiency

25 May 2017, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for DHFR were set to 27604308; 21310277; 21310276;27830117

25 May 2017, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for DHFR were set to 27604308; 21310277;21310276

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 Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for DHFR were set to Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839

1 Mar 2017, Gel status: 0

Created

Manju Kurian (UCL-Institute of Child Health)

DHFR was created by Manju

1 Mar 2017, Gel status: 0

Added New Source

Manju Kurian (UCL-Institute of Child Health)

DHFR was added to Neurotransmitter disorderspanel. Sources: Literature