PHF6

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

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

• Fetal anomalies

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

• Intellectual disability

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

• Pigmentary skin disorders

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

• Severe early-onset obesity

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

• Cytopenias and congenital anaemias

  Unknown

• Skeletal dysplasia

Disease associations (Open Targets)

• Borjeson-Forssman-Lehmann syndrome

  0.82

• neurodegenerative disease

  0.54

• hereditary disease

  0.51

• acute myeloid leukemia

  0.50

• Intellectual disability

  0.46

• T-cell acute lymphoblastic leukemia

  0.38

• lymphoid neoplasm

  0.37

• carcinoma of liver and intrahepatic biliary tract

  0.37

• ovarian endometrioid adenocarcinoma with squamous differentiation

  0.37

• endometrial endometrioid adenocarcinoma

  0.37

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

Protein function (UniProt)