NAXE

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Ataxia and cerebellar anomalies - narrow panel

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Inherited white matter disorders

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Mitochondrial disorders

  BIALLELIC, autosomal or pseudoautosomal

• Possible mitochondrial disorder - nuclear genes

  BIALLELIC, autosomal or pseudoautosomal

• White matter disorders and cerebral calcification - narrow panel

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy

  0.76

• mitochondrial disease

  0.37

• inborn mitochondrial metabolism disorder

  0.37

• Decreased total leukocyte count

  0.21

• hereditary disease

  0.18

• atrial fibrillation

  0.12

• hepatocellular carcinoma

  0.10

• Alzheimer disease

  0.09

• neoplasm

  0.09

• neutropenia

  0.08

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

Protein function (UniProt)