Fetal anomalies
Gene: SHOC2

SHOC2 (SHOC2, leucine rich repeat scaffold protein)
EnsemblGeneIds (GRCh38): ENSG00000108061
EnsemblGeneIds (GRCh37): ENSG00000108061
OMIM: 602775, Gene2Phenotype
SHOC2 is in 14 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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: 10 Aug 2021, 10:17 p.m. | Last Modified: 10 Aug 2021, 10:17 p.m.

Panel Version: 0.4036

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Created: 10 Aug 2021, 10:17 p.m.
Last Modified: 10 Aug 2021, 10:17 p.m.
Panel version: Imported from Intellectual disability syndromic and non-syndromic panel version 0.4036

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Genomics England PanelApp
Genetic Health Queensland

Phenotypes

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

OMIM

602775

Clinvar variants

Variants in SHOC2

Penetrance

None

Publications

Mode of Pathogenicity

Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Panels with this gene