LZTR1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Familial tumours of the nervous system

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Familial Tumours Syndromes of the central & peripheral Nervous system

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Fetal anomalies

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Fetal hydrops

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Intellectual disability

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Monogenic short stature

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Paediatric or syndromic cardiomyopathy

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• Noonan syndrome

  0.84

• schwannomatosis

  0.81

• Noonan syndrome 10

  0.79

• LZTR1-related schwannomatosis

  0.76

• RASopathy

  0.57

• hereditary neoplastic syndrome

  0.56

• Inherited cancer-predisposing syndrome

  0.56

• Abnormality of the cardiovascular system

  0.56

• Noonan syndrome and Noonan-related syndrome

  0.49

• male infertility with azoospermia or oligozoospermia due to single gene mutation

  0.45

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

Protein function (UniProt)