Disorders of immune dysregulation
Gene: NFAT5
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
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
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
Publications for gene: NFAT5 were set to 25667416
Gene: nfat5 has been classified as Amber List (Moderate Evidence).
Gene: nfat5 has been classified as Red List (Low Evidence).
Phenotypes for gene: NFAT5 were changed from to Recurrent infections; Autoimmune enterocolopathy
Publications for gene: NFAT5 were set to 25667416
Publications for gene: NFAT5 were set to
Mode of inheritance for gene: NFAT5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene: nfat5 has been classified as Red List (Low Evidence).
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