FH

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Adult solid tumours cancer susceptibility

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Adult solid tumours for rare disease

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Endometrial cancer pertinent cancer susceptibility

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Fumarate hydratase-related tumour syndromes

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Inherited phaeochromocytoma and paraganglioma

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Inherited phaeochromocytoma and paraganglioma excluding NF1

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

+13 more panels — install the extension to see the full list inline on any page.

Disease associations (Open Targets)

• hereditary leiomyomatosis and renal cell cancer

  0.84

• fumaric aciduria

  0.82

• Inherited cancer-predisposing syndrome

  0.58

• hereditary neoplastic syndrome

  0.58

• Multiple cutaneous leiomyomas

  0.58

• neurodegenerative disease

  0.48

• tricarboxylic acid cycle disorder

  0.46

• renal carcinoma

  0.42

• ovarian cancer

  0.40

• hereditary pheochromocytoma-paraganglioma

  0.37

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

Protein function (UniProt)