ADAMTSL2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Skeletal dysplasia

  BIALLELIC, autosomal or pseudoautosomal

• Ehlers Danlos syndrome with a likely monogenic cause

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

• geleophysic dysplasia

  0.82

• neurodegenerative disease

  0.47

• lethal short-limb skeletal dysplasia, Al Gazali type

  0.43

• Ehlers-Danlos syndrome, dermatosparaxis type

  0.38

• Abnormal facial shape

  0.33

• Hernia of the abdominal wall

  0.31

• Abnormality of the skeletal system

  0.26

• hereditary disease

  0.19

• Hallux valgus

  0.19

• carpal tunnel syndrome

  0.18

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