Cerebral folate deficiency
Gene: DHFRComment 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.
5 patients, 3 families, 2 reports.Created: 9 Feb 2016, 4:27 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
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
Promoted after searching for additional genes, none found (8/12/2016)
DHFR was added to Cerebral folate deficiencypanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen
This gene has been classified as Green List (High Evidence).
Publications for DHFR were set to 21310276; 21310277
Publications for DHFR were set to 21310276; 21310277.
Phenotypes for DHFR were set to Megaloblastic anemia due to dihydrofolate reductase deficiency 613839
This gene has been classified as Green List (High Evidence).
DHFR was added to Cerebral folate deficiencypanel. Sources: Expert Review