Macrocephaly_Megalencephaly

Gene: RRAS

Red List (low evidence)

Macrocephaly is not a reported feature.

Catts et al (2021) identified a 7-year-old boy with a history of craniosynostosis, congenital heart defect, and mild dysmorphic features who was incidentally found to have pediatric MDS with monosomy 7 in the context of previously unrecognized germline RRAS mutation. A heterozygous c.116_118dup (NM_006270.5) variant resulting in p.G39dup was identified and excluded in an unaffected sibling, and both parents.

Two individuals reported. One de novo variant, the inheritance of the other variant uncertain. Some supportive functional data. Rated as LIMITED by ClinGen (reviewed 27/04/2018).

Created: 3 May 2022, 7:16 a.m. | Last Modified: 3 May 2022, 7:16 a.m.

Panel Version: 0.107

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Noonan syndrome

Publications

• 24705357
• 32815881