C12orf57

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Early onset or syndromic epilepsy

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Ocular coloboma

  BIALLELIC, autosomal or pseudoautosomal

• Structural eye disease

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• temtamy syndrome

  0.80

• Aicardi-Goutieres syndrome 9

  0.51

• Spasticity

  0.41

• Global developmental delay

  0.40

• neurodegenerative disease

  0.34

• Intellectual disability

  0.34

• hydronephrosis

  0.33

• vesicoureteral reflux

  0.33

• attention deficit-hyperactivity disorder

  0.33

• Renal atrophy

  0.33

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

Protein function (UniProt)