COG4

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Bilateral congenital or childhood onset cataracts

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Congenital disorders of glycosylation

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Monogenic short stature

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Skeletal dysplasia

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

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Disease associations (Open Targets)

• microcephalic osteodysplastic dysplasia, Saul-Wilson type

  0.80

• COG4-congenital disorder of glycosylation

  0.79

• hereditary disease

  0.42

• neurodegenerative disease

  0.38

• congenital disorder of glycosylation

  0.37

• Delayed gross motor development

  0.34

• arthropathy

  0.21

• pyknoachondrogenesis

  0.06

• X-linked osteoporosis with fractures

  0.06

• dentin dysplasia

  0.05

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

Protein function (UniProt)