FREM1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Anophthalmia or microphthalmia

  BIALLELIC, autosomal or pseudoautosomal

• CAKUT

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Structural eye disease

  BIALLELIC, autosomal or pseudoautosomal

• Unexplained kidney failure in young people

  BIALLELIC, autosomal or pseudoautosomal

• Unexplained young onset end-stage renal disease - additional genes

  BIALLELIC, autosomal or pseudoautosomal

• Rare syndromic craniosynostosis or isolated multisuture synostosis

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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Disease associations (Open Targets)

• oculotrichoanal syndrome

  0.77

• BNAR syndrome

  0.76

• trigonocephaly 2

  0.70

• isolated trigonocephaly

  0.42

• hereditary disease

  0.42

• renal agenesis

  0.39

• Unilateral renal agenesis

  0.37

• renal agenesis, unilateral

  0.37

• arthropathy

  0.30

• actinic keratosis

  0.29

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

Protein function (UniProt)