GDF6

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Fetal anomalies

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Skeletal dysplasia

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Structural eye disease

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Deafness and congenital structural abnormalities

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Retinal disorders

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Anophthalmia or microphthalmia

• Currarino triad

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

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Disease associations (Open Targets)

• Klippel-Feil syndrome 1, autosomal dominant

  0.77

• isolated microphthalmia 4

  0.75

• Isolated anophthalmia - microphthalmia

  0.71

• Leber congenital amaurosis 17

  0.69

• multiple synostoses syndrome

  0.60

• microphthalmia, isolated, with coloboma

  0.52

• multiple synostoses syndrome 4

  0.50

• congenital anomaly of kidney and urinary tract

  0.44

• Leber congenital amaurosis

  0.42

• microphthalmia

  0.38

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

Protein function (UniProt)