Congenital Heart Defect

Gene: SHOC2

Green List (high evidence)

Over 40 individuals reported with variants in SHOC2 and Noonan syndrome-like disorder with loose anagen hair. Facial features are similar to those observed in Noonan syndrome, including hypertelorism, ptosis, downslanting palpebral fissures, low-set posteriorly angulated ears, and overfolded pinnae. In addition, affected individuals have short stature, frequently with growth hormone deficiency; cognitive deficits; relative macrocephaly; small posterior fossa resulting in Chiari I malformation; hypernasal voice; cardiac defects, especially dysplasia of the mitral valve and septal defects; and ectodermal abnormalities, in which the most characteristic feature is the hair anomaly, including easily pluckable, sparse, thin, slow-growing hair. The p.Ser2Gly variant is recurrent.

Created: 11 Sep 2020, 9:27 p.m. | Last Modified: 11 Sep 2020, 9:27 p.m.

Panel Version: 0.66

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Noonan syndrome-like with loose anagen hair 1, MIM# 607721

Publications

• 19684605
• 23918763
• 20882035