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Cerebral folate deficiency

Gene: DHFR

Green List (high evidence)

DHFR (dihydrofolate reductase)
EnsemblGeneIds (GRCh38): ENSG00000228716
EnsemblGeneIds (GRCh37): ENSG00000228716
OMIM: 126060, Gene2Phenotype
DHFR is in 14 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)

Green List (high evidence)

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)

Green List (high evidence)

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

History Filter Activity

8 Dec 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted after searching for additional genes, none found (8/12/2016)

8 Dec 2016, Gel status: 4

Upload gene information

Sarah Leigh (Genomics England Curator)

DHFR was added to Cerebral folate deficiencypanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen

8 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

6 Dec 2016, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for DHFR were set to 21310276; 21310277

6 Dec 2016, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for DHFR were set to 21310276; 21310277.

6 Dec 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

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

6 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

7 Oct 2015, Gel status: 0

Added New Source

Siddharth Banka banka (Univesrsity of Manchester)

DHFR was added to Cerebral folate deficiencypanel. Sources: Expert Review