PanelApp (staging)
  1. Genes and Genomic Entities
  2. DHFR

DHFR

dihydrofolate reductase
OMIM: 126060, ClinGen, DECIPHER

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green DHFR in Mendeliome


Version 1.2302

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Megaloblastic anaemia due to dihydrofolate reductase deficiency, MIM# 613839

Green DHFR in Neurotransmitter Defects


Level 2: Neurology and neurodevelopmental disorders
Version 1.7

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Megaloblastic anemia due to dihydrofolate reductase deficiency, MIM# 613839

    Amber DHFR in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.108

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert Review
    Phenotypes
    • Megaloblastic anemia due to dihydrofolate reductase deficiency, MIM# 613839

    Green DHFR in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.63

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Megaloblastic anemia due to dihydrofolate reductase deficiency, MIM# 613839

    Green DHFR in Red cell disorders


    Level 2: Haematological disorders
    Version 1.29

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Yorkshire and North East GLH
    • NHS GMS
    • Wessex and West Midlands GLH
    • North West GLH
    • London South GLH
    Phenotypes
    • Megaloblastic anaemia due to dihydrofolate reductase deficiency, MIM# 613839

    Red DHFR in Fetal anomalies


    Version 1.313

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Genomics England PanelApp
    • Genetic Health Queensland
    Phenotypes
    • Megaloblastic anaemia due to dihydrofolate reductase deficiency, MIM# 613839

    Green DHFR in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Megaloblastic anaemia due to dihydrofolate reductase deficiency, MIM# 613839
    Tags
    • treatable
    • metabolic