MGP

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Skeletal dysplasia

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• VACTERL-like phenotypes

Disease associations (Open Targets)

• Keutel syndrome

  0.73

• spondyloepiphyseal dysplasia

  0.40

• osteoarthritis, hand

  0.35

• osteoarthritis, knee

  0.35

• osteoarthritis, hip

  0.33

• total joint arthroplasty

  0.30

• hereditary disease

  0.16

• polyarticular arthritis

  0.16

• Short palm

  0.12

• Platyspondyly

  0.12

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

Protein function (UniProt)