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  3. NFATC2
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Susceptibility to Viral Infections

Gene: NFATC2

Amber List (moderate evidence)
NFATC2 (nuclear factor of activated T-cells 2)
EnsemblGeneIds (GRCh38): ENSG00000101096
EnsemblGeneIds (GRCh37): ENSG00000101096
OMIM: 600490, Gene2Phenotype
NFATC2 is in 5 panels

3 reviews

Bryony Thompson (Royal Melbourne Hospital)

I don't know

Now 2 consanguineous families are reported with homozygous variants (a frameshift & an in-frame deletion). Both families have a lymphoproliferative disorder and one family also had soft tissue and cartilage abnormalities.
Created: 16 Nov 2024, 3:54 a.m. | Last Modified: 16 Nov 2024, 3:54 a.m.
Panel Version: 0.129

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Lymphoproliferative syndrome, MONDO:0016537, NFATC2-related

Publications

Created: 16 Nov 2024, 3:54 a.m.
Last Modified: 16 Nov 2024, 3:54 a.m.
Panel version: 0.129

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Homozygous variant.
Created: 2 Aug 2024, 1:36 a.m. | Last Modified: 2 Aug 2024, 1:36 a.m.
Panel Version: 0.120

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Lymphoproliferative syndrome, MONDO:0016537, NFATC2-related

Created: 2 Aug 2024, 1:36 a.m.
Last Modified: 2 Aug 2024, 1:36 a.m.
Panel version: 0.120

Peter McNaughton (Queensland Children's Hospital)

Red List (low evidence)

12yo girl born to consanguineous parents with EBV associated lymphoproliferation. Initially presented with recurrent chest infections, lung deterioration, chronic wet cough and failure to thrive at the age of 9 and severe hypogammaglobulinaemia. Her elder brother died of lymphoma when he was 5 years old, otherwise family history was unremarkable.
Sources: Literature
Created: 26 Jul 2024, 3:51 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
EBV associated lymphoproliferative disease

Publications

Created: 26 Jul 2024, 3:51 a.m.

Panel version: 0.117

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Lymphoproliferative syndrome, MONDO:0016537, NFATC2-related
OMIM
600490
Clinvar variants
Variants in NFATC2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Nov 2024, Gel status: 2

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: NFATC2 were set to PMID: 38427060

16 Nov 2024, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: nfatc2 has been classified as Amber List (Moderate Evidence).

2 Aug 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nfatc2 has been classified as Red List (Low Evidence).

2 Aug 2024, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NFATC2 were changed from EBV associated lymphoproliferative disease to Lymphoproliferative syndrome, MONDO:0016537, NFATC2-related

2 Aug 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nfatc2 has been classified as Red List (Low Evidence).

26 Jul 2024, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Peter McNaughton (Queensland Children's Hospital)

gene: NFATC2 was added gene: NFATC2 was added to Susceptibility to Viral Infections. Sources: Literature Mode of inheritance for gene: NFATC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NFATC2 were set to PMID: 38427060 Phenotypes for gene: NFATC2 were set to EBV associated lymphoproliferative disease Review for gene: NFATC2 was set to RED