Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.43
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- UKGTN
- Expert list
Phenotypes
- TTC7A deficiency
- Epithelial Barrier Dysfunction
- Gastrointestinal defects and immunodeficiency syndrome 243150
|
Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.75
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Expert list
- Radboud University Medical Center, Nijmegen
Phenotypes
- Gastrointestinal defects and immunodeficiency syndrome, 243150
|
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
- Expert Review Green
- IUIS Classification February 2018
- Victorian Clinical Genetics Services
- ESID Registry 20171117
- GRID V2.0
Phenotypes
- Gastrointestinal defects and immunodeficiency syndrome, 243150
- Immunodeficiencies with multiple intestinal atresias
- Combined immunodeficiency
- Combined immunodeficiency-enteropathy spectrum
- Bacterial (sepsis), fungal, viral infections, multiple intestinal atresias, often with intrauterine polyhydramnios and early demise, some with SCID phenotype
- Combined immunodeficiencies with associated or syndromic features
- Multiple intestinal atresia and severe combined immunodeficiency
|
Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.23
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- UKGTN
- Radboud University Medical Center, Nijmegen
Phenotypes
- Gastrointestinal defects and immunodeficiency syndrome 243150
|
Version 3.3
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Gastrointestinal defects and immunodeficiency syndrome, OMIM:243150
|
Version 4.201
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
- Gastrointestinal defects and immunodeficiency syndrome, 243150
- Multiple intestinal atresia and severe combined immunodeficiency
- Combined immunodeficiency
- Immunodeficiencies with multiple intestinal atresias
- Combined immunodeficiency-enteropathy spectrum
- Bacterial (sepsis), fungal, viral infections, multiple intestinal atresias, often with intrauterine polyhydramnios and early demise, some with SCID phenotype
- Combined immunodeficiencies with associated or syndromic features
|
Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.9
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- Expert list
Phenotypes
- anorectal malformation
- Gastrointestinal defects and immunodeficiency syndrome 243150
- INTESTINAL ATRESIA, MULTIPLE
|
Version 3.157
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- PAGE DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- INTESTINAL ATRESIA, MULTIPLE
|
Version 3.87
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
- INTESTINAL ATRESIA, MULTIPLE 243150
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.536
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 Red
- BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- Intestinal atresia, multiple, 243150
|
Version 1.184
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Gastrointestinal defects and immunodeficiency syndrome, 243150
|
Version 1.5
Latest signed off version: v1.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Expert list
Phenotypes
- Gastrointestinal defects and immunodeficiency syndrome, OMIM:243150
|