AIFM1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

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

• Hereditary neuropathy

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

• Hereditary neuropathy or pain disorder

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

• Intellectual disability

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

• Likely inborn error of metabolism

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

• Mitochondrial disorders

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

• Monogenic hearing loss

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

• Paediatric or syndromic cardiomyopathy

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

+7 more panels — install the extension to see the full list inline on any page.

Disease associations (Open Targets)

• severe X-linked mitochondrial encephalomyopathy

  0.81

• X-linked hereditary sensory and autonomic neuropathy with deafness

  0.79

• X-linked Charcot-Marie-Tooth disease type 4

  0.76

• spondyloepimetaphyseal dysplasia, Bieganski type

  0.75

• Charcot-Marie-Tooth disease X-linked recessive 4

  0.74

• X-linked hereditary sensory and autonomic neuropathy with hearing loss

  0.73

• combined oxidative phosphorylation deficiency

  0.62

• neurodegenerative disease

  0.53

• Charcot-Marie-Tooth disease

  0.52

• auditory neuropathy

  0.49

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

Protein function (UniProt)