NAA10

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

• Fetal anomalies

  X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

• Intellectual disability

  X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

• Structural eye disease

  X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

• Paediatric or syndromic cardiomyopathy

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Ocular coloboma

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

Disease associations (Open Targets)

• Ogden syndrome

  0.80

• Premature aging appearance-developmental delay-cardiac arrhythmia syndrome

  0.73

• Microphthalmia - ankyloblepharon - intellectual disability

  0.61

• Intellectual disability

  0.49

• hereditary disease

  0.49

• microphthalmia, Lenz type

  0.46

• NAA10-related syndrome

  0.44

• Severe intellectual disability

  0.34

• neurodevelopmental disorder

  0.30

• syndromic microphthalmia

  0.19

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

Protein function (UniProt)