DYM

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Peroxisomal disorders

  BIALLELIC, autosomal or pseudoautosomal

• Skeletal dysplasia

  BIALLELIC, autosomal or pseudoautosomal

• Undiagnosed metabolic disorders

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset dystonia, chorea or related movement disorder

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Disease associations (Open Targets)

• Dyggve-Melchior-Clausen disease

  0.79

• Smith-McCort dysplasia 1

  0.75

• Smith-McCort dysplasia

  0.66

• hereditary disease

  0.41

• Lethal encephalopathy due to mitochondrial and peroxisomal fission defect

  0.37

• encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1

  0.37

• early-onset non-syndromic cataract

  0.34

• total knee arthroplasty

  0.29

• osteoarthritis, knee

  0.29

• aneurysm

  0.29

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

Protein function (UniProt)