FAT4

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• COVID-19 research

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Intestinal failure or congenital diarrhoea

  BIALLELIC, autosomal or pseudoautosomal

• Primary immunodeficiency or monogenic inflammatory bowel disease

  BIALLELIC, autosomal or pseudoautosomal

• Primary lymphoedema

  BIALLELIC, autosomal or pseudoautosomal

• Malformations of cortical development

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• Hennekam lymphangiectasia-lymphedema syndrome 2

  0.77

• van Maldergem syndrome 2

  0.76

• Hennekam syndrome

  0.69

• Cerebro-facio-articular syndrome

  0.62

• Periventricular heterotopia

  0.50

• van Maldergem syndrome

  0.49

• colorectal adenocarcinoma

  0.42

• glaucoma

  0.40

• melanoma

  0.40

• gastric adenocarcinoma

  0.39

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)