ANOS1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• CAKUT

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

• Fetal anomalies

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

• Hypogonadotropic hypogonadism

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

• Hypogonadotropic hypogonadism (GMS)

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

• Paediatric disorders - additional genes

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

• Unexplained young onset end-stage renal disease - additional genes

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

• Unexplained kidney failure in young people

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

Disease associations (Open Targets)

• hypogonadotropic hypogonadism 1 with or without anosmia

  0.83

• Kallmann syndrome

  0.60

• hypogonadotropic hypogonadism

  0.50

• hereditary disease

  0.42

• congenital anomaly of kidney and urinary tract

  0.37

• Micropenis

  0.35

• Cataract - intellectual disability - hypogonadism

  0.34

• Delayed puberty

  0.27

• amenorrhea

  0.15

• gastric cancer

  0.08

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

Protein function (UniProt)