PAM16

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Skeletal dysplasia

  BIALLELIC, autosomal or pseudoautosomal

• Currarino triad

  BIALLELIC, autosomal or pseudoautosomal

• Mitochondrial disorders

Disease associations (Open Targets)

• autosomal recessive spondylometaphyseal dysplasia, Megarbane type

  0.58

• Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type

  0.54

• nephronophthisis

  0.41

• Parkinson disease

  0.32

• multiple sclerosis

  0.32

• Alzheimer disease

  0.32

• neurodegenerative disease

  0.32

• lysosomal storage disease

  0.32

• duodenitis

  0.21

• alcohol drinking

  0.17

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

Protein function (UniProt)