Level 3: Multi-system inflammatory/autoimmune disorders
Level 2: Rheumatological disorders
Version 1.33
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Emory Genetics Laboratory
Phenotypes
- Majeed syndrome, OMIM:609628
|
Level 2: Viral research
Version 1.142
|
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
- Expert Review Green
- IUIS Classification February 2018
- Victorian Clinical Genetics Services
- ESID Registry 20171117
- GRID V2.0
Phenotypes
- Majeed syndrome, OMIM:609628
- Chronic recurrent multifocal osteomyelitis, transfusion-dependent anemia, cutaneous inflammatory disorders
- Autoinflammatory Disorders
|
Version 4.202
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
- Majeed syndrome, OMIM:609628
- Chronic recurrent multifocal osteomyelitis, transfusion-dependent anemia, cutaneous inflammatory disorders
- Autoinflammatory Disorders
|
Level 3: Anaemias and red cell disorders
Level 2: Haematological disorders
Version 1.118
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Literature
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- BRIDGE consortium (NIHRBR-RD)
Phenotypes
- Majeed syndrome, OMIM:609628
- Microcytic anemia
- Congenital dyserythropoietic anemia
|
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
- Majeed syndrome, OMIM:609628
- Microcytic anemia
- Congenital dyserythropoietic anemia
|
Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.63
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Expert list
Phenotypes
- Majeed syndrome, OMIM:609628
- Chronic recurrent multifocal osteomyelitis with congenital dyserythropoietic anemia
|
Version 1.184
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Majeed syndrome, OMIM:609628
|
Level 3: Primary immunodeficiency disorders
Level 2: Haematological disorders
Version 1.17
Latest signed off version: v1.0
(30 Nov 2022)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
Phenotypes
- Majeed syndrome, OMIM:609628
|