ATP11A

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Monogenic hearing loss

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• White matter disorders and cerebral calcification - narrow panel

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Inherited white matter disorders

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Intellectual disability

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Severe microcephaly

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Auditory Neuropathy Spectrum Disorde

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

• hearing loss, autosomal dominant 84

  0.58

• leukodystrophy, hypomyelinating, 24

  0.51

• autosomal dominant nonsyndromic hearing loss

  0.47

• auditory neuropathy, autosomal dominant 2

  0.33

• skin cancer

  0.30

• preeclampsia

  0.29

• methicillin-resistant staphylococcus aureus infectious disease

  0.29

• COVID-19

  0.29

• exostosis

  0.27

• temporomandibular joint disorder

  0.26

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

Protein function (UniProt)