Disorders of immune dysregulation
Gene: NFAT5EnsemblGeneIds (GRCh38): ENSG00000102908
EnsemblGeneIds (GRCh37): ENSG00000102908
OMIM: 604708, Gene2Phenotype
NFAT5 is in 2 panels
2 reviews
Peter McNaughton (Queensland Children's Hospital)
Two paediatric patients with NFAT5 haploinsufficiency and EBV susceptibility: one with CAEBV infection with hepatitis and enterocolitis, and one with fatal HLH.Created: 17 Oct 2022, 5 a.m. | Last Modified: 17 Oct 2022, 5 a.m.
Panel Version: 0.157
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
EBV susceptibility; HLH
Publications
- PMID: 36238298
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Single individual reported.Created: 11 Apr 2020, 4:23 a.m. | Last Modified: 11 Apr 2020, 4:23 a.m.
Panel Version: 0.50
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Recurrent infections; Autoimmune enterocolopathy
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Melbourne Genomics Health Alliance Immunology Flagship
- Victorian Clinical Genetics Services
- Phenotypes
-
- Immune deficiency disease, MONDO:0003778, NFAT5-related
- Recurrent infections
- Autoimmune enterocolopathy
- EBV susceptibility
- HLH
- OMIM
- 604708
- Clinvar variants
- Variants in NFAT5
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: NFAT5 were changed from Recurrent infections; Autoimmune enterocolopathy to Immune deficiency disease, MONDO:0003778, NFAT5-related; Recurrent infections; Autoimmune enterocolopathy; EBV susceptibility; HLH
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: NFAT5 were set to 25667416
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: nfat5 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: nfat5 has been classified as Red List (Low Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: NFAT5 were changed from to Recurrent infections; Autoimmune enterocolopathy
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: NFAT5 were set to 25667416
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: NFAT5 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: NFAT5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: nfat5 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: NFAT5 was added gene: NFAT5 was added to Disorders of immune dysregulation_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: NFAT5 was set to Unknown