ALX4

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Fetal anomalies

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Rare syndromic craniosynostosis or isolated multisuture synostosis

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Skeletal dysplasia

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Intellectual disability

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Disease associations (Open Targets)

• parietal foramina 2

  0.75

• frontonasal dysplasia with alopecia and genital anomaly

  0.75

• parietal foramina

  0.65

• hair color

  0.48

• hereditary disease

  0.41

• Potocki-Shaffer syndrome

  0.38

• androgenetic alopecia

  0.38

• frontonasal dysplasia

  0.37

• normal pressure hydrocephalus

  0.31

• Deviated nasal septum

  0.30

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

Protein function (UniProt)