Research panel - Severe Paediatric Disorders
Gene: NFAT5

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

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: NFAT5; Recommended initial gene rating: Red List (low evidence); Phenotypes: Adenomas, multiple colorectal, 608456 (3) | Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas, 132600 (3) | Gastric cancer, somatic, 613659 (3); Mode of inheritance: Autosomal recessive | Somatic mutation | ND
Created: 20 Feb 2020, 5:28 p.m. | Last Modified: 20 Feb 2020, 5:28 p.m.

Panel Version: 0.12

Created: 20 Feb 2020, 5:28 p.m.
Last Modified: 20 Feb 2020, 5:28 p.m.
Panel version: 0.12

Details

Mode of Inheritance

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

OMIM

604708

Clinvar variants

Variants in NFAT5

Penetrance

None

Publications

30847515

Panels with this gene