|
Level 2: Viral research
Version 1.142
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- IUIS Classification February 2018
- IUIS Classification December 2019
- GRID V2.0
- Victorian Clinical Genetics Services
- IUIS Classification December 2019
- IUIS Classification February 2018
- Victorian Clinical Genetics Services
- GRID V2.0
Phenotypes
- NFAT5 haploinsufficieny
- IBD, recurrent sinopulmonary infections
- Diseases of Immune Dysregulation
|
|
Version 5.3
Latest signed off version: v5.0
(1 May 2024)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- NHS GMS
- Other
- IUIS Classification December 2019
- IUIS Classification February 2018
- Victorian Clinical Genetics Services
- GRID V2.0
Phenotypes
- Diseases of Immune Dysregulation
- IBD, recurrent sinopulmonary infections
- NFAT5 haploinsufficieny
|
|
Version 1.184
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Red
- Expert list
Phenotypes
- Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas, 132600
- Adenomas, multiple colorectal, 608456
- Gastric cancer, somatic, 613659
|