Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.2
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- UKGTN
- Expert Review Green
- Expert Review
Phenotypes
- Folate malabsorption, hereditary 229050
|
Level 2: Viral research
Version 1.141
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- IUIS Classification February 2018
- London North GLH
- NHS GMS
- GRID V2.0
- Victorian Clinical Genetics Services
- North West GLH
- ESID Registry 20171117
- Expert Review Green
- NHS GMS
- North West GLH
- London North GLH
- IUIS Classification February 2018
- Victorian Clinical Genetics Services
- Expert Review Green
- ESID Registry 20171117
- GRID V2.0
Phenotypes
- Folate malabsorption, hereditary 229050
- Congenital defect of folate absorption
- Megaloblastic anemia, failure to thrive, if untreated for prolonged periods results in intellectual disability
- Defects of Vitamin B12 and Folate metabolism
- Combined immunodeficiencies with associated or syndromic features
|
Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.147
|
review
|
Not set
|
Sources
- Emory Genetics Laboratory
Phenotypes
|
Version 4.196
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Other
- NHS GMS
- North West GLH
- London North GLH
- IUIS Classification February 2018
- Victorian Clinical Genetics Services
- ESID Registry 20171117
- GRID V2.0
Phenotypes
- Folate malabsorption, hereditary 229050
- Defects of Vitamin B12 and Folate metabolism
- Congenital defect of folate absorption
- Megaloblastic anemia, failure to thrive, if untreated for prolonged periods results in intellectual disability
- Combined immunodeficiencies with associated or syndromic features
|
Level 3: Anaemias and red cell disorders
Level 2: Haematological disorders
Version 1.118
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Folate malabsorption
- anemia
- pancytopenia
|
Version 4.46
Latest signed off version: v4.34
(31 Jul 2023)
|
review
|
Unknown
|
Sources
Phenotypes
|
Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.615
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Literature
Phenotypes
- Hereditary folate malabsorption (Disorders of folate metabolism and transport)
- Folate malabsorption, hereditary
|
Version 4.134
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
- Folate malabsorption, hereditary
- Hereditary folate malabsorption (Disorders of folate metabolism and transport)
|
Version 3.146
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- PAGE DD-Gene2Phenotype
Phenotypes
- HEREDITARY FOLATE MALABSORPTION
|
Version 3.79
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
- HEREDITARY FOLATE MALABSORPTION 229050
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.506
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
- Victorian Clinical Genetics Services
- Expert Review Green
Phenotypes
- HEREDITARY FOLATE MALABSORPTION (HFM)
|
Version 3.18
Latest signed off version: v3.12
(31 Jul 2023)
|
review
|
Not set
|
Sources
- NHS GMS
- South West GLH
- Expert Review Red
Phenotypes
- Folate malabsorption, hereditary, 229050
- Dystonia
|
Version 3.74
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- South West GLH
- Expert Review Red
- London North GLH
Phenotypes
- Folate malabsorption, hereditary, 229050
|
Version 1.182
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Folate malabsorption, hereditary, 229050
|