SIX6

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Anophthalmia or microphthalmia

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Structural eye disease

  BIALLELIC, autosomal or pseudoautosomal

• Ocular coloboma

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Bilateral congenital or childhood onset cataracts

• DDG2P

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

• Microphthalmia - cataract

  0.73

• open-angle glaucoma

  0.56

• glaucoma

  0.47

• Developmental cataract

  0.43

• sclerocornea

  0.43

• low tension glaucoma

  0.42

• anophthalmia-microphthalmia syndrome

  0.42

• neurodegenerative disease

  0.41

• isolated anophthalmia-microphthalmia syndrome

  0.37

• microphthalmia

  0.36

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

Protein function (UniProt)

Diseases associated with SIX6

Curated MONDO disease pages that list SIX6 among their top associated genes.

• open-angle glaucomaRare