DLX5

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Fetal anomalies

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Limb disorders

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Skeletal dysplasia

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Monogenic hearing loss

Disease associations (Open Targets)

• Split hand-split foot malformation

  0.67

• split hand-foot malformation 1 with sensorineural hearing loss

  0.60

• Split hand - split foot - deafness

  0.51

• split hand-foot malformation

  0.37

• neurodegenerative disease

  0.37

• male infertility

  0.28

• smoking initiation

  0.25

• attention deficit-hyperactivity disorder

  0.21

• substance abuse

  0.21

• hereditary disease

  0.19

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

Protein function (UniProt)