FRMD7

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Albinism or congenital nystagmus

  X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

• DDG2P

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Infantile nystagmus

  X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

• Retinal disorders

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Fetal anomalies

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Intellectual disability

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

Disease associations (Open Targets)

• nystagmus 1, congenital, X-linked

  0.83

• hereditary disease

  0.42

• congenital nystagmus

  0.38

• Retinal dystrophy

  0.34

• neurodegenerative disease

  0.34

• endometriosis

  0.30

• uterine corpus leiomyoma

  0.29

• Nystagmus

  0.25

• foveal hypoplasia

  0.19

• ovarian endometriosis

  0.18

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

Protein function (UniProt)