EVC2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Neurological ciliopathies

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Rare multisystem ciliopathy disorders

  BIALLELIC, autosomal or pseudoautosomal

• Skeletal ciliopathies

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Skeletal dysplasia

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Thoracic dystrophies

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset dystonia, chorea or related movement disorder

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• Ellis-van Creveld syndrome

  0.82

• acrofacial dysostosis, Weyers type

  0.80

• Ellis Van Creveld syndrome

  0.78

• hereditary disease

  0.50

• Jeune syndrome

  0.49

• short-rib thoracic dysplasia 6 with or without polydactyly

  0.43

• Beemer-Langer syndrome

  0.41

• cervical carcinoma

  0.34

• DNA methylation

  0.30

• Meckel syndrome

  0.27

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

Protein function (UniProt)