LRBA

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Childhood interstitial lung disease

  BIALLELIC, autosomal or pseudoautosomal

• COVID-19 research

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Diabetes with additional phenotypes suggestive of a monogenic aetiology

  BIALLELIC, autosomal or pseudoautosomal

• Familial diabetes

  BIALLELIC, autosomal or pseudoautosomal

• Infantile enterocolitis & monogenic inflammatory bowel disease

  BIALLELIC, autosomal or pseudoautosomal

• Intestinal failure or congenital diarrhoea

  BIALLELIC, autosomal or pseudoautosomal

• Multi-organ autoimmune diabetes

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• combined immunodeficiency due to LRBA deficiency

  0.82

• colobomatous microphthalmia-rhizomelic dysplasia syndrome

  0.52

• cholelithiasis

  0.47

• immunodeficiency disease

  0.43

• severe combined immunodeficiency due to CORO1A deficiency

  0.41

• gallstones

  0.40

• Knee pain

  0.32

• Abnormality of the skeletal system

  0.30

• placental abruption

  0.30

• Cholecystitis

  0.29

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

Protein function (UniProt)

Diseases associated with LRBA

Curated MONDO disease pages that list LRBA among their top associated genes.

• cholelithiasisRare