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Mendeliome

Gene: NFAT5

Amber List (moderate evidence)

NFAT5 (nuclear factor of activated T-cells 5)
EnsemblGeneIds (GRCh38): ENSG00000102908
EnsemblGeneIds (GRCh37): ENSG00000102908
OMIM: 604708, Gene2Phenotype
NFAT5 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Two additional individuals with missense variants reported in PMID 36238298: one with EBV infection with hepatitis and enterocolitis, and one with fatal HLH.
Created: 17 Oct 2022, 7:05 a.m. | Last Modified: 17 Oct 2022, 7:05 a.m.
Panel Version: 1.411
Single individual reported.
Created: 11 Apr 2020, 4:26 a.m. | Last Modified: 11 Apr 2020, 4:26 a.m.
Panel Version: 0.2106

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Immune deficiency disease, MONDO:0003778, NFAT5-related; Recurrent infections; Autoimmune enterocolopathy; EBV susceptibility; HLH

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • 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

17 Oct 2022, Gel status: 2

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

17 Oct 2022, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NFAT5 were set to 25667416

17 Oct 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nfat5 has been classified as Amber List (Moderate Evidence).

11 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nfat5 has been classified as Red List (Low Evidence).

11 Apr 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NFAT5 were changed from to Recurrent infections; Autoimmune enterocolopathy

11 Apr 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NFAT5 were set to

11 Apr 2020, Gel status: 1

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

11 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nfat5 has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

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 Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: NFAT5 was set to Unknown