TM2D3

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Severe microcephaly

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• neurodevelopmental disorder

  0.42

• neurodegenerative disease

  0.30

• Alzheimer disease

  0.19

• pernicious anemia

  0.02

• ataxia telangiectasia

  0.01

• dermatomyositis

  0.01

• chronic kidney disease

  0.00

• cardiovascular disorder

  0.00

• early-onset autosomal dominant Alzheimer disease

  0.00

• Pick disease

  0.00

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

Protein function (UniProt)