Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.2
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- UKGTN
- Radboud University Medical Center, Nijmegen
- Expert Review Green
- Expert Review
Phenotypes
- Megaloblastic anemia due to dihydrofolate reductase deficiency 613839
|
Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.9
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Literature
Phenotypes
- Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839
- Dihydrofolate reductase deficiency
Tags
|
Level 3: Anaemias and red cell disorders
Level 2: Haematological disorders
Version 1.118
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Radboud University Medical Center, Nijmegen
Phenotypes
- Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839
Tags
|
Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 1.119
Component of the following Super Panels:
Renal superpanel - broad
|
review
|
Not set
|
Sources
- Radboud University Medical Center, Nijmegen
Phenotypes
- Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839
- (originally on the Imerslund-Grasbeck syndrome gene panel)
|
Version 3.8
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- North West GLH
- Yorkshire and North East GLH
- London South GLH
- NHS GMS
- Wessex and West Midlands GLH
Phenotypes
- 613839 Megaloblastic anemia due to dihydrofolate reductase deficiency
- Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839
|
Version 3.42
Latest signed off version: v3.0
(22 Mar 2023)
Component of the following Super Panels:
Renal superpanel - broad
|
review
|
Unknown
|
Sources
Phenotypes
- Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839
- (originally on the Imerslund-Grasbeck syndrome gene panel)
|
Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.617
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Literature
Phenotypes
- Dihydrofolate reductase deficiency (Disorders of folate metabolism and transport)
- Megaloblastic anemia due to dihydrofolate reductase deficiency
|
Version 4.137
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
Unexplained death in infancy and sudden unexplained death in childhood
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- London North GLH
- NHS GMS
- Expert Review Green
Phenotypes
- Dihydrofolate reductase deficiency (Disorders of folate metabolism and transport)
- Megaloblastic anemia due to dihydrofolate reductase deficiency
|
Version 3.169
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- PAGE DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY
|
Version 3.90
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY 613839
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.557
Latest signed off version: v5.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Radboud University Medical Center, Nijmegen
Phenotypes
- Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839
- MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY
|
Level 3: Syndromes with prominent renal abnormalities
Level 2: Renal and urinary tract disorders
Version 4.12
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Renal superpanel - broad
Renal superpanel - narrow
|
review
|
Not set
|
Sources
- NHS GMS
- Expert Review Red
- Radboud University Medical Center, Nijmegen
Phenotypes
- Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839
- (originally on the Imerslund-Grasbeck syndrome gene panel)
|
Version 3.78
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- PanelApp
- Expert Review Red
- London North GLH
Phenotypes
- Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839
- Dihydrofolate reductase deficiency
|
Version 1.184
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839
|