Cerebral folate deficiency
Gene: DHFREnsemblGeneIds (GRCh38): ENSG00000228716
EnsemblGeneIds (GRCh37): ENSG00000228716
OMIM: 126060, Gene2Phenotype
DHFR is in 12 panels
3 reviews
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least two variants reported in three families, together with in vitro studies and dynamic simulation of p.L80F suggesting potential destabilization of the DHFR protein or disruption in NADPH binding (PMID 21310276)Created: 8 Dec 2016, 11:47 a.m.
Helen Savage (Congenica Ltd)
5 patients, 3 families, 2 reports.Created: 9 Feb 2016, 4:27 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Siddharth Banka banka (Univesrsity of Manchester)
Five patients from three families have been reported in two separate publications.Created: 7 Oct 2015, 8:48 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dihydrofolate reductase deficiency
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- UKGTN
- Radboud University Medical Center, Nijmegen
- Expert Review Green
- Phenotypes
-
- Megaloblastic anemia due to dihydrofolate reductase deficiency 613839
- OMIM
- 126060
- Clinvar variants
- Variants in DHFR
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Fetal anomalies
- Proteinuric renal disease
- Undiagnosed metabolic disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Neurotransmitter disorders
- Cytopenias and congenital anaemias
- Unexplained kidney failure in young people
- DDG2P
- Cerebral folate deficiency
- Rare anaemia
History Filter Activity
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted after searching for additional genes, none found (8/12/2016)
Upload gene information
Sarah Leigh (Genomics England Curator)DHFR was added to Cerebral folate deficiencypanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Sarah Leigh (Genomics England Curator)Publications for DHFR were set to 21310276; 21310277
Set publications
Sarah Leigh (Genomics England Curator)Publications for DHFR were set to 21310276; 21310277.
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for DHFR were set to Megaloblastic anemia due to dihydrofolate reductase deficiency 613839
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Siddharth Banka banka (Univesrsity of Manchester)DHFR was added to Cerebral folate deficiencypanel. Sources: Expert Review