Version 1.10
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Susceptibility to spina bifida
|
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
- Recurrent bacterial infection, Pneumocystis jirovecii, megaloblastic anemia, failure to thrive, neutropenia, seizures, intellectual disability, folate-responsive
- Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia 617780
- Combined immunodeficiencies with associated or syndromic features
- Defects of Vitamin B12 and Folate metabolism
|
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
- Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia 617780
- Defects of Vitamin B12 and Folate metabolism
- Recurrent bacterial infection, Pneumocystis jirovecii, megaloblastic anemia, failure to thrive, neutropenia, seizures, intellectual disability, folate-responsive
- Combined immunodeficiencies with associated or syndromic features
|
Version 3.27
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- Expert review Red
- NHS GMS
- North West GLH
- London South GLH
- Yorkshire and North East GLH
- Wessex and West Midlands GLH
Phenotypes
- Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia, 617780
|
Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.615
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- {Spina bifida, folate-sensitive, susceptibility to} 601634 AR
- {Abruptio placentae, susceptibility to}
|
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
Phenotypes
- {Abruptio placentae, susceptibility to}
- {Spina bifida, folate-sensitive, susceptibility to} 601634 AR
|
Version 1.182
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia, 617780
|