Gene | Phenotype | Percent[1] | Genotype-phenotype correlation |
PTPN11 | NS | 50 | Classical NS. Highest incidence of pulmonary valve stenosis, atrial septal defects. |
NS with increased risk of JMML | Specific mutations. | ||
NSML | Specific mutations. Usually normal intellect. | ||
SOS1[2] | NS | 11 | Less short stature and intellectual disability. Dry skin common. |
SOS2 | Classical NS | Similar to SOS1 phenotype, but lymphatic anomalies may be prevalent. | |
RAF1[3] | NS, but variable | 5 | Hypertrophic cardiomyopathy common (95%); may be neonatal. Pediatric dilated cardiomyopathy. Pulmonary artery hypertension. Lentigines (NSML) reported. |
RIT1[4] | NS, but variable | 5 | Normal growth, skin, and intellect. High incidence of cardiac abnormalities, including atrial tachyarrhythmia. Hypertrophic cardiomyopathy common; may be neonatal. Lymphatic complications common, including prenatal. May have small increased malignancy risk. |
LZTR1[5] | NS, variable from mild to lethal fetal hydrops | 10 | Lymphatic anomalies and hypertrophic cardiomyopathy prevalent amongst individuals with autosomal-recessive LZTR1-associated NS. Autosomal-dominant forms are frequently milder. |
NRAS[6] | Classical NS | 0.2 | |
RRAS, RRAS2 | Classical NS | ||
MRAS | NS | Hypertrophic cardiomyopathy. | |
SHOC2[7] | NS with loose anagen hair | 2 | Sparse hair, hyperpigmented skin, eczema, keratosis pilaris. Nasal voice. Growth hormone deficiency common. |
CBL[8] | NS, but variable, often subtle manifestations | Increased risk of JMML. Moyamoya disease reported. | |
PPP1CB[9] | SHOC2-like | ||
KRAS | Some NS/CFC | 1.5 | Intellectual disability more common. |
BRAF | Some NS/CFC | <2 | Skin and hair differences more common. More intellectual disability. NSML reported. |
MAP2K1 | Rare NS/CFC | <2 |
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