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  2. Cytopenias and congenital anaemias
  3. DHFR
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Cytopenias and congenital anaemias

Gene: DHFR

Green List (high evidence)
DHFR (dihydrofolate reductase)
EnsemblGeneIds (GRCh38): ENSG00000228716
EnsemblGeneIds (GRCh37): ENSG00000228716
OMIM: 126060, Gene2Phenotype
DHFR is in 12 panels

1 review

Arianna Tucci (Genomics England Curator)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839

Publications

Created: 9 Mar 2017, 4:32 p.m.

Panel version: 0.522

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839
Tags
treatable
OMIM
126060
Clinvar variants
Variants in DHFR
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

25 May 2017, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for DHFR were set to 21310277

11 Mar 2017, Gel status: 4

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.

10 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

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

9 Mar 2017, Gel status: 4

Set Mode of Inheritance, Added New Source

Sarah Leigh (Genomics England Curator)

DHFR was added to Cytopaenias and congenital anaemiaspanel. Source: Expert Review Green Model of inheritance for gene DHFR was set to BIALLELIC, autosomal or pseudoautosomal

17 Feb 2017, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

DHFR was added to Cytopaenias and congenital anaemiaspanel. Sources: Radboud University Medical Center, Nijmegen

17 Feb 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

DHFR was created by LouiseD