Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.42
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- UKGTN
- Emory Genetics Laboratory
- Eligibility statement prior genetic testing
- Expert list
Phenotypes
- IL-10 signalling defects / deficiency
- Inflammatory bowel disease 28, early onset, autosomal recessive 613148
|
Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.74
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Other
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
Phenotypes
- Early Onset Inflammatory Bowel Disease
- Inflammatory bowel disease 28, early onset, autosomal recessive, 613148
- Inflammatory Bowel Disease
- Inflammatory Bowel Disease (Very Early Onset)
- IL-10 signalling defects / deficiency
- Inflammatory bowel disease 28, early onset, autosomal recessive 613148
- Ulcerative Colitis
|
Level 2: Viral research
Version 1.141
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- IUIS Classification February 2018
- London North GLH
- GOSH PID v.8.0
- 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
- GOSH PID v.8.0
Phenotypes
- IBD, Folliculitis, recurrent respiratory diseases, arthritis, lymphoma
- Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome
- Diseases of Immune Dysregulation
- Inflammatory bowel disease 28, early onset, autosomal recessive, 613148
|
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
- GOSH PID v.8.0
Phenotypes
- Inflammatory bowel disease 28, early onset, autosomal recessive, 613148
- Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome
- IBD, Folliculitis, recurrent respiratory diseases, arthritis, lymphoma
- Diseases of Immune Dysregulation
Tags
|
Version 1.182
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Inflammatory bowel disease 28, early onset, autosomal recessive, 613148
|